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Articles 1 - 30 of 41
Full-Text Articles in Medicine and Health Sciences
Researcher And Institutional Review Board Chair Perspectives On Incidental Findings In Genomic Research, Janet Williams, Sandra Daack-Hirsch, Martha Driessnack, Nancy Downing, L. Shinkunas, D. Brandt, C. Simon
Researcher And Institutional Review Board Chair Perspectives On Incidental Findings In Genomic Research, Janet Williams, Sandra Daack-Hirsch, Martha Driessnack, Nancy Downing, L. Shinkunas, D. Brandt, C. Simon
Sandra Daack-Hirsch
Aims: Genomic research can produce findings unrelated to a study's aims. The purpose of this study was to examine researcher and Institutional Review Board (IRB) chair perspectives on genomic incidental findings (GIFs). Methods: Nineteen genomic researchers and 34 IRB chairs from 42 institutions participated in semi-structured telephone interviews. Researchers and chairs described GIFs within their respective roles. Few had direct experience with disclosure of GIFs. Researchers favored policies where a case by case determination regarding whether GIF disclosure would be offered after discovery, whereas IRB chairs preferred policies where procedures for disclosure would be determined prior to approval of the …
A Practical First Step To Integrating Genetics Into The Curriculum, Sandra Daack-Hirsch, Martha Driessnack, Elena Perkhounkova, R. Furukawa, A. Ramirez
A Practical First Step To Integrating Genetics Into The Curriculum, Sandra Daack-Hirsch, Martha Driessnack, Elena Perkhounkova, R. Furukawa, A. Ramirez
Sandra Daack-Hirsch
We conducted a systematic literature review to identify tools that could be used to measure faculty and undergraduate nursing students' genetic literacy, and we assessed the utility of one of those tools, the Genetic Literacy Assessment Instrument (GLAI), with faculty and students at a college of nursing in a large public university. No significant differences were noted between faculty and students in terms of their overall scores on the GLAI. On average, faculty answered 76% of the questions correctly and students answered 73% of the questions correctly. Both groups scored highest in the genetics and society domain (93% and 85% …
Researcher And Institutional Review Board Chair Perspectives On Incidental Findings In Genomic Research, Janet K. Williams, Sandra Daack-Hirsch, Martha Driessnack, Nancy R. Downing, L. Shinkunas, D. Brandt, C. Simon
Researcher And Institutional Review Board Chair Perspectives On Incidental Findings In Genomic Research, Janet K. Williams, Sandra Daack-Hirsch, Martha Driessnack, Nancy R. Downing, L. Shinkunas, D. Brandt, C. Simon
Sandra Daack-Hirsch
Aims: Genomic research can produce findings unrelated to a study's aims. The purpose of this study was to examine researcher and Institutional Review Board (IRB) chair perspectives on genomic incidental findings (GIFs). Methods: Nineteen genomic researchers and 34 IRB chairs from 42 institutions participated in semi-structured telephone interviews. Researchers and chairs described GIFs within their respective roles. Few had direct experience with disclosure of GIFs. Researchers favored policies where a case by case determination regarding whether GIF disclosure would be offered after discovery, whereas IRB chairs preferred policies where procedures for disclosure would be determined prior to approval of the …
Informed Consent And Genomic Incidental Findings: Irb Chair Perspectives, C. Simon, Janet Williams, L. Shinkunas, D. Brandt, Sandra Daack-Hirsch, Martha Driessnack
Informed Consent And Genomic Incidental Findings: Irb Chair Perspectives, C. Simon, Janet Williams, L. Shinkunas, D. Brandt, Sandra Daack-Hirsch, Martha Driessnack
Sandra Daack-Hirsch
It is unclear how genomic incidental finding (GIF) prospects should be addressed in informed consent processes. An exploratory study on this topic was conducted with 34 purposively sampled Chairs of institutional review boards (IRBs) at centers conducting genome-wide association studies. Most Chairs (96%) reported no knowledge of local IRB requirements regarding GIFs and informed consent. Chairs suggested consent processes should address the prospect of, and study disclosure policy on, GIFs; GIF management and follow-up; potential clinical significance of GIFs; potential risks of GIF disclosure; an opportunity for participants to opt out of GIF disclosure; and duration of the researcher's duty …
Maternal Genes And Facial Clefts In Offspring: A Comprehensive Search For Genetic Associations In Two Population-Based Cleft Studies From Scandinavia, A. Jugessur, M. Shi, H. K. Gjessing, R. T. Lie, A. J. Wilcox, C. R. Weinberg, K. Christensen, A. L. Boyles, Sandra Daack-Hirsch, T. T. Nguyen, L. Christiansen, A. C. Lidral, J. C. Murray
Maternal Genes And Facial Clefts In Offspring: A Comprehensive Search For Genetic Associations In Two Population-Based Cleft Studies From Scandinavia, A. Jugessur, M. Shi, H. K. Gjessing, R. T. Lie, A. J. Wilcox, C. R. Weinberg, K. Christensen, A. L. Boyles, Sandra Daack-Hirsch, T. T. Nguyen, L. Christiansen, A. C. Lidral, J. C. Murray
Sandra Daack-Hirsch
BACKGROUND: Fetal conditions can in principle be affected by the mother's genotype working through the prenatal environment. METHODOLOGY/PRINCIPAL FINDINGS: Genotypes for 1536 SNPs in 357 cleft candidate genes were available from a previous analysis in which we focused on fetal gene effects. After data-cleaning, genotypes for 1315 SNPs in 334 autosomal genes were available for the current analysis of maternal gene effects. Two complementary statistical methods, TRIMM and HAPLIN, were used to detect multi-marker effects in population-based samples from Norway (562 case-parent and 592 control-parent triads) and Denmark (235 case-parent triads). We analyzed isolated cleft lip with or without cleft …
Genetic Determinants Of Facial Clefting: Analysis Of 357 Candidate Genes Using Two National Cleft Studies From Scandinavia, A. Jugessur, M. Shi, H. K. Gjessing, R. T. Lie, A. J. Wilcox, C. R. Weinberg, K. Christensen, A. L. Boyles, Sandra Daack-Hirsch, T. N. Trung, C. Bille, A. C. Lidral, J. C. Murray
Genetic Determinants Of Facial Clefting: Analysis Of 357 Candidate Genes Using Two National Cleft Studies From Scandinavia, A. Jugessur, M. Shi, H. K. Gjessing, R. T. Lie, A. J. Wilcox, C. R. Weinberg, K. Christensen, A. L. Boyles, Sandra Daack-Hirsch, T. N. Trung, C. Bille, A. C. Lidral, J. C. Murray
Sandra Daack-Hirsch
BACKGROUND: Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark: 235 case-parent triads). METHODOLOGY/PRINCIPAL FINDINGS: We used two complementary statistical methods, TRIMM and HAPLIN, to look for associations across these two national samples. TRIMM tests for association in each gene by using multi-SNP genotypes from case-parent triads directly without the need to infer haplotypes. HAPLIN on the other hand estimates the full haplotype distribution over a set of …
Medical Sequencing Of Candidate Genes For Nonsyndromic Cleft Lip And Palate, A. R. Vieira, J. R. Avila, Sandra Daack-Hirsch, E. Dragan, T. M. Felix, F. Rahimov, J. Harrington, R. R. Schultz, Y. Watanabe, M. Johnson, J. Fang, S. E. O'Brien, I. M. Orioli, E. E. Castilla, D. R. Fitzpatrick, R. Jiang, M. L. Marazita, J. C. Murray
Medical Sequencing Of Candidate Genes For Nonsyndromic Cleft Lip And Palate, A. R. Vieira, J. R. Avila, Sandra Daack-Hirsch, E. Dragan, T. M. Felix, F. Rahimov, J. Harrington, R. R. Schultz, Y. Watanabe, M. Johnson, J. Fang, S. E. O'Brien, I. M. Orioli, E. E. Castilla, D. R. Fitzpatrick, R. Jiang, M. L. Marazita, J. C. Murray
Sandra Daack-Hirsch
Nonsyndromic or isolated cleft lip with or without cleft palate (CL/P) occurs in wide geographic distribution with an average birth prevalence of 1/700. We used direct sequencing as an approach to study candidate genes for CL/P. We report here the results of sequencing on 20 candidate genes for clefts in 184 cases with CL/P selected with an emphasis on severity and positive family history. Genes were selected based on expression patterns, animal models, and/or role in known human clefting syndromes. For seven genes with identified coding mutations that are potentially etiologic, we performed linkage disequilibrium studies as well in 501 …
Genome Scan, Fine-Mapping, And Candidate Gene Analysis Of Non-Syndromic Cleft Lip With Or Without Cleft Palate Reveals Phenotype-Specific Differences In Linkage And Association Results, M. L. Marazita, A. C. Lidral, J. C. Murray, L. L. Field, B. S. Maher, T. Goldstein Mchenry, M. E. Cooper, M. Govil, Sandra Daack-Hirsch, B. Riley, A. Jugessur, T. Felix, L. Morene, M. A. Mansilla, A. R. Vieira, K. Doheny, E. Pugh, C. Valencia-Ramirez, M. Arcos-Burgos
Genome Scan, Fine-Mapping, And Candidate Gene Analysis Of Non-Syndromic Cleft Lip With Or Without Cleft Palate Reveals Phenotype-Specific Differences In Linkage And Association Results, M. L. Marazita, A. C. Lidral, J. C. Murray, L. L. Field, B. S. Maher, T. Goldstein Mchenry, M. E. Cooper, M. Govil, Sandra Daack-Hirsch, B. Riley, A. Jugessur, T. Felix, L. Morene, M. A. Mansilla, A. R. Vieira, K. Doheny, E. Pugh, C. Valencia-Ramirez, M. Arcos-Burgos
Sandra Daack-Hirsch
OBJECTIVES: Non-syndromic orofacial clefts, i.e. cleft lip (CL) and cleft palate (CP), are among the most common birth defects. The goal of this study was to identify genomic regions and genes for CL with or without CP (CL/P). METHODS: We performed linkage analyses of a 10 cM genome scan in 820 multiplex CL/P families (6,565 individuals). Significant linkage results were followed by association analyses of 1,476 SNPs in candidate genes and regions, utilizing a weighted false discovery rate (wFDR) approach to control for multiple testing and incorporate the genome scan results. RESULTS: Significant (multipoint HLOD >or=3.2) or genome-wide-significant (HLOD >or=4.02) …
Prevalence And Nonrandom Distribution Of Exonic Mutations In Interferon Regulatory Factor 6 In 307 Families With Van Der Woude Syndrome And 37 Families With Popliteal Pterygium Syndrome, R. De Lima, S. Hoper, M. Ghassibe, M. Cooper, N. Rorick, S. Kondo, L. Katz, M. Marazita, J. Compton, S. Bale, U. Hehr, M. Dixon, Sandra Daack-Hirsch, O. Boute, B. Bayet, N. Revencu, C. Verellen-Dumoulin, M. Vikkula, A. Richieri-Costa, D. Moretti-Ferreira, J. Murray, B. Schutte
Prevalence And Nonrandom Distribution Of Exonic Mutations In Interferon Regulatory Factor 6 In 307 Families With Van Der Woude Syndrome And 37 Families With Popliteal Pterygium Syndrome, R. De Lima, S. Hoper, M. Ghassibe, M. Cooper, N. Rorick, S. Kondo, L. Katz, M. Marazita, J. Compton, S. Bale, U. Hehr, M. Dixon, Sandra Daack-Hirsch, O. Boute, B. Bayet, N. Revencu, C. Verellen-Dumoulin, M. Vikkula, A. Richieri-Costa, D. Moretti-Ferreira, J. Murray, B. Schutte
Sandra Daack-Hirsch
PURPOSE: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. METHODS: We performed direct sequence analysis of interferon regulatory factor 6 exons on samples from three collections, two with Van der Woude and one with popliteal pterygium …
Targeted Scan Of Fifteen Regions For Nonsyndromic Cleft Lip And Palate In Filipino Families, R. Schultz, M. Cooper, Sandra Daack-Hirsch, M. Shi, B. Nepomucena, K. Graf, E. O'Brien, S. O'Brien, M. Marazita, J. Murray
Targeted Scan Of Fifteen Regions For Nonsyndromic Cleft Lip And Palate In Filipino Families, R. Schultz, M. Cooper, Sandra Daack-Hirsch, M. Shi, B. Nepomucena, K. Graf, E. O'Brien, S. O'Brien, M. Marazita, J. Murray
Sandra Daack-Hirsch
Cleft lip with or without cleft palate (CL/P) is a congenital anomaly with variable birth prevalence based on geographic origins, with the highest rates commonly found in Asian populations. About 70% of cases are nonsyndromic (NS), in which the affected individual has no other abnormalities. NS CL/P is a complex disorder with genetic and environmental effects and no specific genetic loci yet confirmed. Fifteen candidate regions were examined for linkage to NS CL/P. Regions were chosen based on previous suggestive linkage and/or association in human families, or suggestive animal model data. Polymorphic markers in these regions were genotyped for analysis …
Exclusion Of The Branchio-Oto-Renal Syndrome Locus (Eya1) From Patients With Branchio-Oculo-Facial Syndrome, A. Lin, E. Semina, Sandra Daack-Hirsch, E. Roeder, C. Curry, K. Rosenbaum, D. Weaver, J. Murray
Exclusion Of The Branchio-Oto-Renal Syndrome Locus (Eya1) From Patients With Branchio-Oculo-Facial Syndrome, A. Lin, E. Semina, Sandra Daack-Hirsch, E. Roeder, C. Curry, K. Rosenbaum, D. Weaver, J. Murray
Sandra Daack-Hirsch
In addition to craniofacial, auricular, ophthalmologic, and oral anomalies, the distinctive phenotype of the branchio-oculo-facial (BOF) syndrome (MIM 113620) includes skin defects in the neck or infra/supra-auricular region. These unusual areas of thin, erythematous wrinkled skin differ from the discrete cervical pits, cysts, and fistulas of the branchio-oto-renal (BOR) syndrome (MIM 113650). Although the BOF and BOR syndromes are sufficiently distinctive that they should not be confused, both can be associated with nasolacrimal duct stenosis, deafness, prehelical pits, malformed pinna, and renal anomalies. Furthermore, a reported father and son [Legius et al., 1990, Clin Genet 37:347-500] had features of both …
A Genome Wide Linkage Scan For Cleft Lip And Palate And Dental Anomalies, A. Vieira, T. Mchenry, Sandra Daack-Hirsch, J. Murray, M. Marazita
A Genome Wide Linkage Scan For Cleft Lip And Palate And Dental Anomalies, A. Vieira, T. Mchenry, Sandra Daack-Hirsch, J. Murray, M. Marazita
Sandra Daack-Hirsch
We revisited 46 families with two or more siblings affected with an orofacial cleft that participated in previous genome wide studies and collected complete dental information. Genotypes from 392 microsatellite markers at 10 cM intervals were reanalyzed. We carried out four sets of genome wide analyses. First, we ran the analysis solely on the cleft status. Second, we assigned to any dental anomaly (tooth agenesis, supernumerary teeth, and microdontia) an affection status, and repeated the analysis. Third, we ran only the 19 families where the proband had a cleft with no dental anomalies. Finally, we ran only the 27 families …
Context For Filipino Community Based Orofacial Cleft Prevention Interventions, Sandra Daack-Hirsch
Context For Filipino Community Based Orofacial Cleft Prevention Interventions, Sandra Daack-Hirsch
Sandra Daack-Hirsch
Among Filipinos of lower SES 1/500 babies are born yearly with an orofacial cleft. This is one of the highest birth prevalence of orofacial clefting in the world. The main purpose of this study was to obtain contextual information prior to planning for community based health interventions in the Philippines regarding orofacial clefting. A descriptive ethnography was used to describe working class Filipinos' (including healthcare workers') current beliefs about the causes, prevention, and treatment of orofacial clefting, and vitamin taking practices during pregnancy. Modifications of Kleinman's explanatory models were made to include questions about people's general and personal beliefs about …
A Case Of 3q29 Microdeletion Syndrome Involving Oral Cleft Inherited From A Nonaffected Mosaic Parent: Molecular Analysis And Ethical Implications, A. Petrin, Sandra Daack-Hirsch, J. L'Heureux, J. Murray
A Case Of 3q29 Microdeletion Syndrome Involving Oral Cleft Inherited From A Nonaffected Mosaic Parent: Molecular Analysis And Ethical Implications, A. Petrin, Sandra Daack-Hirsch, J. L'Heureux, J. Murray
Sandra Daack-Hirsch
Objective: The objective of this study was to use array comparative genomic hybridization to detect causal microdeletions in samples of subjects with cleft lip and palate. Subjects: We analyzed DNA samples from a male patient and his parents seen during surgical screening for an Operation Smile medical mission in the Philippines. Method: We used Affymetrix(R) Genome-Wide Human SNP Array 6.0 followed by sequencing and quantitative polymerase chain reaction using SYBR Green I dye. Results: We report the second case of 3q29 microdeletion syndrome including cleft lip with or without cleft palate and the first case of this microdeletion syndrome inherited …
Dermatoglyphic Pattern Types In Subjects With Nonsyndromic Cleft Lip With Or Without Cleft Palate (Cl/P) And Their Unaffected Relatives In The Philippines, N. Scott, S. Weinberg, K. Neiswanger, Sandra Daack-Hirsch, S. O'Brien, J. Murray, M. Marazita
Dermatoglyphic Pattern Types In Subjects With Nonsyndromic Cleft Lip With Or Without Cleft Palate (Cl/P) And Their Unaffected Relatives In The Philippines, N. Scott, S. Weinberg, K. Neiswanger, Sandra Daack-Hirsch, S. O'Brien, J. Murray, M. Marazita
Sandra Daack-Hirsch
OBJECTIVE: To investigate dermatoglyphic patterns in 95 nonsyndromic Filipino subjects with nonsyndromic cleft lip with or without cleft palate (CL/P) and 90 of their unaffected relatives. DESIGN: Retrospective study of dermatoglyphic pattern types. SETTING: Negros Occidental and Cavite in the Philippines. PARTICIPANTS: Nonsyndromic subjects with CL/P and their unaffected relatives. METHODS: Dermatoglyphic patterns were categorized as arch, ulnar loop, radial loop, whorl, or other by three independent raters. Pattern data from the subjects, the unaffected relatives, and an unaffected control population (from the literature) were compared using chi-square tests. As a measure of asymmetry, dissimilarity between pattern types on homologous …
A Novel Homeobox Gene Pitx3 Is Mutated In Families With Autosomal-Dominant Cataracts And Asmd, E. Semina, R. Ferrell, H. Mintz-Hittner, P. Bitoun, W. Alward, R. Reiter, C. Funkhauser, Sandra Daack-Hirsch, J. Murray
A Novel Homeobox Gene Pitx3 Is Mutated In Families With Autosomal-Dominant Cataracts And Asmd, E. Semina, R. Ferrell, H. Mintz-Hittner, P. Bitoun, W. Alward, R. Reiter, C. Funkhauser, Sandra Daack-Hirsch, J. Murray
Sandra Daack-Hirsch
We report here the identification of a new human homeobox gene, PITX3, and its involvement in anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts in humans. The PITX3 gene is the human homologue of the mouse Pitx3 gene and is a member of the RIEG/PITX homeobox gene family. The protein encoded by PITX3 shows 99% amino-acid identity to the mouse protein, with 100% identity in the homeodomain and approximately 70% overall identity to other members of this family. We mapped the human PITX3 gene to 10q25 using a radiation-hybrid panel. A collection of 80 DNA samples from individuals with various …
Genetic Determinants Of Facial Clefting: Analysis Of 357 Candidate Genes Using Two National Cleft Studies From Scandinavia, A. Jugessur, M. Shi, H. K. Gjessing, R. T. Lie, A. J. Wilcox, C. R. Weinberg, K. Christensen, A. L. Boyles, Sandra Daack-Hirsch, T. N. Trung, C. Bille, A. C. Lidral, J. C. Murray
Genetic Determinants Of Facial Clefting: Analysis Of 357 Candidate Genes Using Two National Cleft Studies From Scandinavia, A. Jugessur, M. Shi, H. K. Gjessing, R. T. Lie, A. J. Wilcox, C. R. Weinberg, K. Christensen, A. L. Boyles, Sandra Daack-Hirsch, T. N. Trung, C. Bille, A. C. Lidral, J. C. Murray
Sandra Daack-Hirsch
BACKGROUND: Facial clefts are common birth defects with a strong genetic component. To identify fetal genetic risk factors for clefting, 1536 SNPs in 357 candidate genes were genotyped in two population-based samples from Scandinavia (Norway: 562 case-parent and 592 control-parent triads; Denmark: 235 case-parent triads). METHODOLOGY/PRINCIPAL FINDINGS: We used two complementary statistical methods, TRIMM and HAPLIN, to look for associations across these two national samples. TRIMM tests for association in each gene by using multi-SNP genotypes from case-parent triads directly without the need to infer haplotypes. HAPLIN on the other hand estimates the full haplotype distribution over a set of …
Impaired Fgf Signaling Contributes To Cleft Lip And Palate, B. Riley, M. Mansilla, J. Ma, Sandra Daack-Hirsch, B. Maher, L. Raffensperger, E. Russo, A. Vieira, C. Dode, M. Mohammadi, M. Marazita, J. Murray
Impaired Fgf Signaling Contributes To Cleft Lip And Palate, B. Riley, M. Mansilla, J. Ma, Sandra Daack-Hirsch, B. Maher, L. Raffensperger, E. Russo, A. Vieira, C. Dode, M. Mohammadi, M. Marazita, J. Murray
Sandra Daack-Hirsch
Nonsyndromic cleft lip and palate (NS CLP) is a complex birth defect resulting from a combination of genetic and environmental factors. Several members of the FGF and FGFR families are expressed during craniofacial development and can rarely harbor mutations that result in human clefting syndromes. We hypothesized that disruptions in this pathway might also contribute to NS CLP. We sequenced the coding regions and performed association testing on 12 genes (FGFR1, FGFR2, FGFR3, FGF2, FGF3, FGF4, FGF7, FGF8, FGF9, FGF10, FGF18, and NUDT6) and used protein structure analyses to predict the function of amino acid variants. Seven likely disease-causing mutations …
Filipino Explanatory Models Of Cleft Lip With Or Without Cleft Palate, Sandra Daack-Hirsch, H. Gamboa
Filipino Explanatory Models Of Cleft Lip With Or Without Cleft Palate, Sandra Daack-Hirsch, H. Gamboa
Sandra Daack-Hirsch
OBJECTIVE: To describe beliefs about the cause, prevention, and treatment of cleft lip with or without cleft palate (CL+/-P) among working class people and health care workers in the Philippines. DESIGN AND SETTING: The study was a focused ethnography and took place in the province of Negros Occidental, Philippines. PARTICIPANTS: Using a stratified purposeful recruitment strategy, 80 individuals were selected for study. They were categorized into three groups: those having a CL+/-P or a child with a CL+/-P, those who neither had a CL+/-P nor child with CL+/-P, and health care workers. METHODS: Kleinman's explanatory models of illness theory were …
The Effect Of Follow-Up On Limiting Non-Participation Bias In Genetic Epidemiologic Investigations, P. Romitti, R. Munger, J. Murray, Sandra Daack-Hirsch, J. Hanson, T. Burns
The Effect Of Follow-Up On Limiting Non-Participation Bias In Genetic Epidemiologic Investigations, P. Romitti, R. Munger, J. Murray, Sandra Daack-Hirsch, J. Hanson, T. Burns
Sandra Daack-Hirsch
The use of a comprehensive follow-up strategy to limit non-participation bias was evaluated in a population-based case-control study of orofacial clefts. Birth parents were requested to provide exposure data, and index children and parents were asked to provide blood specimens. Follow-up included telephone or postal reminders every two weeks for up to three months. Consent to participate was received from 281 (76.6%) case mothers and 246 (72.4%) case fathers. The corresponding totals for controls were 279 (54.7%) and 245 (49.8%). Evaluation of participation rates by intensity of follow-up showed that 23% of case and 18% of control families consented without …
Microdeletions At Chromosome Bands 1q32-Q41 As A Cause Of Van Der Woude Syndrome, B. Schutte, A. Basart, Y. Watanabe, J. Laffin, K. Coppage, B. Bjork, Sandra Daack-Hirsch, S. Patil, M. Dixon, J. Murray
Microdeletions At Chromosome Bands 1q32-Q41 As A Cause Of Van Der Woude Syndrome, B. Schutte, A. Basart, Y. Watanabe, J. Laffin, K. Coppage, B. Bjork, Sandra Daack-Hirsch, S. Patil, M. Dixon, J. Murray
Sandra Daack-Hirsch
Van der Woude syndrome (VWS) is an autosomal dominant disorder comprising cleft lip and/or cleft palate and lip pits. We reported previously a family whose underlying mutation is a 500-800 kb deletion localized to chromosome bands 1q32-q41 [Sander et al., 1994: Hum Mol Genet 3:576-578]. Along with cleft lip/palate and lip pits, affected relatives exhibit developmental delays, suggesting that the function of a gene nearby may also be disrupted. To further localize the VWS gene we searched for other deletions that cause VWS. An allele loss assay was performed using a novel highly polymorphic marker, D1S3753. From a panel of …
Working-Class Filipino Women's Perspectives On Factors That Facilitate Or Hinder Prenatal Micronutrients Supplementation To Prevent Congenital Anomalies, Sandra Daack-Hirsch, H. Gamboa
Working-Class Filipino Women's Perspectives On Factors That Facilitate Or Hinder Prenatal Micronutrients Supplementation To Prevent Congenital Anomalies, Sandra Daack-Hirsch, H. Gamboa
Sandra Daack-Hirsch
The study was conducted to plan for a community-health campaign to inform working-class Filipinos about the causes and prevention of orofacial clefting. Prenatal micronutrients may play a role in preventing orofacial clefting. Therefore, women's practices and perspectives on barriers to and facilitators of micronutrient supplementation were elicited. A total of 43 women and 22 health care workers were interviewed. Barriers to taking supplements included side effects, late prenatal care, the view that micronutrients are medications, inadequate supply, and health care workers who were unaware that prenatal vitamin supplements prevent congenital anomalies. The main facilitator was women's understanding that prenatal micronutrients …
Discordant Mz Twins With Cleft Lip And Palate: A Model For Identifying Genes In Complex Traits, M. Mansilla, J. Kimani, L. Mitchell, K. Christensen, D. Boomsma, Sandra Daack-Hirsch, B. Nepomucena, D. Wyszynski, T. Felix, N. Martin, J. Murray
Discordant Mz Twins With Cleft Lip And Palate: A Model For Identifying Genes In Complex Traits, M. Mansilla, J. Kimani, L. Mitchell, K. Christensen, D. Boomsma, Sandra Daack-Hirsch, B. Nepomucena, D. Wyszynski, T. Felix, N. Martin, J. Murray
Sandra Daack-Hirsch
Monozygotic (MZ) twins may be discordant for complex traits due to differential environmental exposure in utero, epigenetic variability in imprinting, X chromosome inactivation, or stochastic effects. Occasionally MZ twins may be discordant for chromosomal and single gene disorders due to somatic mosaicism. For complex traits, which are due to the interactive effects of multiple genes and environmental factors, the affected twin of a discordant MZ pair offers the possibility for identifying somatic mutations in candidate genes. DNA sequencing of candidate genes in discordant MZ twins can identify those rare etiologic mutational events responsible for the different phenotypes since the confounding …
Maternal Genes And Facial Clefts In Offspring: A Comprehensive Search For Genetic Associations In Two Population-Based Cleft Studies From Scandinavia, A. Jugessur, M. Shi, H. K. Gjessing, R. T. Lie, A. J. Wilcox, C. R. Weinberg, K. Christensen, A. L. Boyles, Sandra Daack-Hirsch, T. T. Nguyen, L. Christiansen, A. C. Lidral, J. C. Murray
Maternal Genes And Facial Clefts In Offspring: A Comprehensive Search For Genetic Associations In Two Population-Based Cleft Studies From Scandinavia, A. Jugessur, M. Shi, H. K. Gjessing, R. T. Lie, A. J. Wilcox, C. R. Weinberg, K. Christensen, A. L. Boyles, Sandra Daack-Hirsch, T. T. Nguyen, L. Christiansen, A. C. Lidral, J. C. Murray
Sandra Daack-Hirsch
BACKGROUND: Fetal conditions can in principle be affected by the mother's genotype working through the prenatal environment. METHODOLOGY/PRINCIPAL FINDINGS: Genotypes for 1536 SNPs in 357 cleft candidate genes were available from a previous analysis in which we focused on fetal gene effects. After data-cleaning, genotypes for 1315 SNPs in 334 autosomal genes were available for the current analysis of maternal gene effects. Two complementary statistical methods, TRIMM and HAPLIN, were used to detect multi-marker effects in population-based samples from Norway (562 case-parent and 592 control-parent triads) and Denmark (235 case-parent triads). We analyzed isolated cleft lip with or without cleft …
Candidate Genes For Nonsyndromic Cleft Lip And Palate And Maternal Cigarette Smoking And Alcohol Consumption: Evaluation Of Genotype-Environment Interactions From A Population-Based Case-Control Study Of Orofacial Clefts, P. Romitti, A. Lidral, R. Munger, Sandra Daack-Hirsch, T. Burns, J. Murray
Candidate Genes For Nonsyndromic Cleft Lip And Palate And Maternal Cigarette Smoking And Alcohol Consumption: Evaluation Of Genotype-Environment Interactions From A Population-Based Case-Control Study Of Orofacial Clefts, P. Romitti, A. Lidral, R. Munger, Sandra Daack-Hirsch, T. Burns, J. Murray
Sandra Daack-Hirsch
Previous studies suggest that the relationship between genes and nonsyndromic cleft lip +/- cleft palate (CLP) or cleft palate only (CP) may be modified by the environment. Using data from a population-based case-control study, we examined allelic variants for three genes, i.e., transforming growth factor alpha (TGFA), transforming growth factor beta 3 (TGFB3), and Msh (Drosophila) homeobox homolog 1 (MSX1), and their interactions with two exposures during pregnancy (maternal cigarette smoking and alcohol consumption) as risk factors for CLP and CP. For each cleft phenotype, risk estimates associated with most allelic variants tended to be near unity. Risk estimates for …
Candidate Gene/Loci Studies In Cleft Lip/Palate And Dental Anomalies Finds Novel Susceptibility Genes For Clefts, A. Vieira, T. Mchenry, Sandra Daack-Hirsch, J. Murray, M. Marazita
Candidate Gene/Loci Studies In Cleft Lip/Palate And Dental Anomalies Finds Novel Susceptibility Genes For Clefts, A. Vieira, T. Mchenry, Sandra Daack-Hirsch, J. Murray, M. Marazita
Sandra Daack-Hirsch
PURPOSE: We revisited 42 families with two or more cleft-affected siblings who participated in previous studies. Complete dental information was collected to test the hypothesis that dental anomalies are part of the cleft phenotype spectrum, and can provide new opportunities for identification of cleft susceptibility genes. METHODS: Genotypes from 1489 single nucleotide polymorphism markers located in 150 candidate genes/loci were reanalyzed. Two sets of association analyses were carried out. First, we ran the analysis solely on the cleft status. Second, we assigned affection to any cleft or dental anomaly (tooth agenesis, supernumerary teeth, and microdontia) and repeated the analysis. RESULTS: …
A Genome-Wide Linkage Scan For Cleft Lip And Cleft Palate Identifies A Novel Locus On 8p11-23, B. Riley, R. Schultz, M. Cooper, T. Goldstein-Mchenry, Sandra Daack-Hirsch, K. Lee, E. Dragan, A. Vieira, A. Lidral, M. Marazita, J. Murray
A Genome-Wide Linkage Scan For Cleft Lip And Cleft Palate Identifies A Novel Locus On 8p11-23, B. Riley, R. Schultz, M. Cooper, T. Goldstein-Mchenry, Sandra Daack-Hirsch, K. Lee, E. Dragan, A. Vieira, A. Lidral, M. Marazita, J. Murray
Sandra Daack-Hirsch
Isolated or nonsyndromic cleft lip and palate (NS CLP) is a complex disorder resulting from multiple genetic and environmental factors. NS CLP has a birth prevalence of 1 per 500 in the Philippines where large families provide an opportunity for gene localization. Genotyping of 392 microsatellite repeat markers at 10 cM intervals over the genome was performed by the Center for Inherited Disease Research (CIDR) on 220 Filipino families with 567 affected and 1,109 unaffected family members genotyped. Among the most statistically significant results from analysis of the genome-wide scan data was a 20 cM region at 8p11-23 in which …
Characterization Of A Novel Gene Disrupted By A Balanced Chromosomal Translocation T(2;19)(Q11.2;Q13.3) In A Family With Cleft Lip And Palate, K. Yoshiura, J. Machida, Sandra Daack-Hirsch, S. Patil, L. Ashworth, J. Hecht, J. Murray
Characterization Of A Novel Gene Disrupted By A Balanced Chromosomal Translocation T(2;19)(Q11.2;Q13.3) In A Family With Cleft Lip And Palate, K. Yoshiura, J. Machida, Sandra Daack-Hirsch, S. Patil, L. Ashworth, J. Hecht, J. Murray
Sandra Daack-Hirsch
Cleft lip with or without cleft palate is a common birth defect that is genetically complex. The nonsyndromic forms have been studied genetically using linkage and candidate-gene association studies with only partial success in defining the loci responsible for orofacial clefting. Loci for nonsyndromic cases have been suggested on 2p13, 4q31, 6p24, 17q21-q24, and 19q13.2. Recently, we identified a family in which cleft lip and palate segregated in two of three generations with a balanced chromosomal translocation t(2;19)(q11. 2;q13.3). We used a positional-cloning strategy to identify a novel gene disrupted by the translocation on chromosome 19. Eight rare (q 0.01) …
Mutations In Bmp4 Are Associated With Subepithelial, Microform, And Overt Cleft Lip, S. Suzuki, M. Marazita, M. Cooper, N. Miwa, A. Hing, A. Jugessur, N. Natsume, K. Shimozato, N. Ohbayashi, Y. Suzuki, T. Niimi, K. Minami, M. Yamamoto, T. Altannamar, T. Erkhembaatar, H. Furukawa, Sandra Daack-Hirsch, J. L'Heureux, C. Brandon, S. Weinberg, K. Neiswanger, F. Deleyiannis, J. De Salamanca, A. Vieira, A. Lidral, J. Martin, J. Murray
Mutations In Bmp4 Are Associated With Subepithelial, Microform, And Overt Cleft Lip, S. Suzuki, M. Marazita, M. Cooper, N. Miwa, A. Hing, A. Jugessur, N. Natsume, K. Shimozato, N. Ohbayashi, Y. Suzuki, T. Niimi, K. Minami, M. Yamamoto, T. Altannamar, T. Erkhembaatar, H. Furukawa, Sandra Daack-Hirsch, J. L'Heureux, C. Brandon, S. Weinberg, K. Neiswanger, F. Deleyiannis, J. De Salamanca, A. Vieira, A. Lidral, J. Martin, J. Murray
Sandra Daack-Hirsch
Cleft lip with or without cleft palate (CL/P) is a complex trait with evidence that the clinical spectrum includes both microform and subepithelial lip defects. We identified missense and nonsense mutations in the BMP4 gene in 1 of 30 cases of microform clefts, 2 of 87 cases with subepithelial defects in the orbicularis oris muscle (OOM), 5 of 968 cases of overt CL/P, and 0 of 529 controls. These results provide confirmation that microforms and subepithelial OOM defects are part of the spectrum of CL/P and should be considered during clinical evaluation of families with clefts. Furthermore, we suggest a …
Dermatoglyphic Fingerprint Heterogeneity Among Individuals With Nonsyndromic Cleft Lip With Or Without Cleft Palate And Their Unaffected Relatives In China And The Philippines, N. M. Scott, S. M. Weinberg, K. Neiswanger, C. A. Brandon, Sandra Daack-Hirsch, J. C. Murray, Y. E. Liu, M. L. Marazita
Dermatoglyphic Fingerprint Heterogeneity Among Individuals With Nonsyndromic Cleft Lip With Or Without Cleft Palate And Their Unaffected Relatives In China And The Philippines, N. M. Scott, S. M. Weinberg, K. Neiswanger, C. A. Brandon, Sandra Daack-Hirsch, J. C. Murray, Y. E. Liu, M. L. Marazita
Sandra Daack-Hirsch
Cleft lip with or without cleft palate (CL/P) is a common birth defect (birth prevalence ranging from 1/500 to 1/2,000) with a complex etiology. Traits potentially related to CL/P, such as dermatoglyphics, may reflect the genetic and epidemiologic heterogeneity observed in CL/P. Such phenotypic heterogeneity in dermatoglyphic patterns may account for some of the variability in previously reported associations of dermatoglyphics and CL/P. To test this hypothesis, we took dermatoglyphic prints from individuals with nonsyndromic CL/P (n = 460) and their unaffected relatives (n = 254) from the Philippines and China. For both samples three raters designated the patterns as …