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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) …
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 …
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 …
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) …
Analysis Of The P63 Gene In Classical Eec Syndrome, Related Syndromes, And Non-Syndromic Orofacial Clefts, L. L. Barrow, H. Van Bokhoven, Sandra Daack-Hirsch, T. Andersen, S. E. Van Beersum, R. Gorlin, J. C. Murray
Analysis Of The P63 Gene In Classical Eec Syndrome, Related Syndromes, And Non-Syndromic Orofacial Clefts, L. L. Barrow, H. Van Bokhoven, Sandra Daack-Hirsch, T. Andersen, S. E. Van Beersum, R. Gorlin, J. C. Murray
Sandra Daack-Hirsch
EEC syndrome is an autosomal dominant disorder with the cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. EEC syndrome has been linked to chromosome 3q27 and heterozygous p63 mutations were detected in unrelated EEC families. In addition, homozygous p63 null mice exhibit craniofacial abnormalities, limb truncations, and absence of epidermal appendages, such as hair follicles and tooth primordia. In this study, we screened 39 syndromic patients, including four with EEC syndrome, five with syndromes closely related to EEC syndrome, and 30 with other syndromic orofacial clefts and/or limb anomalies. We identified heterozygous p63 mutations in three unrelated cases of …
Complete Sequencing Shows A Role For Msx1 In Non-Syndromic Cleft Lip And Palate, P. A. Jezewski, A. R. Vieira, C. Nishimura, B. Ludwig, M. Johnson, S. E. O'Brien, Sandra Daack-Hirsch, R. E. Schultz, A. Weber, B. Nepomucena, P. A. Romitti, K. Christensen, I. M. Orioli, E. E. Castilla, J. Machida, N. Natsume, J. C. Murray
Complete Sequencing Shows A Role For Msx1 In Non-Syndromic Cleft Lip And Palate, P. A. Jezewski, A. R. Vieira, C. Nishimura, B. Ludwig, M. Johnson, S. E. O'Brien, Sandra Daack-Hirsch, R. E. Schultz, A. Weber, B. Nepomucena, P. A. Romitti, K. Christensen, I. M. Orioli, E. E. Castilla, J. Machida, N. Natsume, J. C. Murray
Sandra Daack-Hirsch
MSX1 has been proposed as a gene in which mutations may contribute to non-syndromic forms of cleft lip and/or cleft palate. Support for this comes from human linkage and linkage disequilibrium studies, chromosomal deletions resulting in haploinsufficiency, a large family with a stop codon mutation that includes clefting as a phenotype, and the Msx1 phenotype in a knockout mouse. This report describes a population based scan for mutations encompassing the sense and antisense transcribed sequence of MSX1 (two exons, one intron). We compare the completed genomic sequence of MSX1 to the mouse Msx1 sequence to identify non-coding homology regions, and …