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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 …
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 …
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 …
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 …
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 …
X-Chromosome Inactivation Patterns In Monozygotic Twins And Sib Pairs Discordant For Nonsyndromic Cleft Lip And/Or Palate, J. Kimani, M. Shi, Sandra Daack-Hirsch, K. Christensen, D. Moretti-Ferreira, M. Marazita, L. Field, J. Canady, J. Murray
X-Chromosome Inactivation Patterns In Monozygotic Twins And Sib Pairs Discordant For Nonsyndromic Cleft Lip And/Or Palate, J. Kimani, M. Shi, Sandra Daack-Hirsch, K. Christensen, D. Moretti-Ferreira, M. Marazita, L. Field, J. Canady, J. Murray
Sandra Daack-Hirsch
Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes, we investigated the role of skewed X chromosome inactivation (XCI) in orofacial clefts. Our samples consisted of female monozygotic (MZ) twins (n = 8) and sister pairs (n = 152) discordant for nonsyndromic clefting. We measured the XCI pattern in peripheral blood lymphocyte DNA using a methylation based androgen receptor gene assay. Skewing of XCI was defined as the deviation in …
Association Of Msx1 And Tgfb3 With Nonsyndromic Clefting In Humans, A. Lidral, P. Romitti, A. Basart, T. Doetschman, N. Leysens, Sandra Daack-Hirsch, E. Semina, L. Johnson, J. Machida, A. Burds, T. Parnell, J. L. Rubenstein, J. Murray
Association Of Msx1 And Tgfb3 With Nonsyndromic Clefting In Humans, A. Lidral, P. Romitti, A. Basart, T. Doetschman, N. Leysens, Sandra Daack-Hirsch, E. Semina, L. Johnson, J. Machida, A. Burds, T. Parnell, J. L. Rubenstein, J. Murray
Sandra Daack-Hirsch
Nonsyndromic cleft lip with or without cleft palate (CL/P) and nonsyndromic cleft palate only (CPO) are common congenital anomalies with significant medical, psychological, social, and economic ramifications. Both CL/P and CPO are examples of complex genetic traits. There exists sufficient evidence to hypothesize that disease loci for CL/P and CPO can be identified by a candidate-gene linkage-disequilibrium (LD) strategy. Candidate genes for clefting, including TGFA, BCL3, DLX2, MSX1, and TGFB3, were screened for LD with either CL/P or CPO in a predominantly Caucasian population, with both case-control- and nuclear-family-based approaches. Previously reported LD for TGFA with both CL/P and CPO …
Interferon Regulatory Factor 6 (Irf6) Gene Variants And The Risk Of Isolated Cleft Lip Or Palate, T. Zucchero, M. Cooper, B. Maher, Sandra Daack-Hirsch, B. Nepomuceno, L. Ribeiro, D. Caprau, K. Christensen, Y. Suzuki, J. Machida, N. Natsume, K. Yoshiura, A. Vieira, I. Orioli, E. Castilla, L. Moreno, M. Arcos-Burgos, A. Lidral, L. Field, Y. Liu, A. Ray, T. Goldstein, R. Schultz, M. Shi, M. Johnson, S. Kondo, B. Schutte, M. Marazita, J. Murray
Interferon Regulatory Factor 6 (Irf6) Gene Variants And The Risk Of Isolated Cleft Lip Or Palate, T. Zucchero, M. Cooper, B. Maher, Sandra Daack-Hirsch, B. Nepomuceno, L. Ribeiro, D. Caprau, K. Christensen, Y. Suzuki, J. Machida, N. Natsume, K. Yoshiura, A. Vieira, I. Orioli, E. Castilla, L. Moreno, M. Arcos-Burgos, A. Lidral, L. Field, Y. Liu, A. Ray, T. Goldstein, R. Schultz, M. Shi, M. Johnson, S. Kondo, B. Schutte, M. Marazita, J. Murray
Sandra Daack-Hirsch
BACKGROUND: Cleft lip or palate (or the two in combination) is a common birth defect that results from a mixture of genetic and environmental factors. We searched for a specific genetic factor contributing to this complex trait by examining large numbers of affected patients and families and evaluating a specific candidate gene. METHODS: We identified the gene that encodes interferon regulatory factor 6 (IRF6) as a candidate gene on the basis of its involvement in an autosomal dominant form of cleft lip and palate, Van der Woude's syndrome. A single-nucleotide polymorphism in this gene results in either a valine or …