PURPOSE: To identify causes of nonsyndromic cleft lip and palate in a Vietnamese population. METHODS: In this study, 175 families with at least one case of cleft lip and/or palate were studied using the candidate genes TGFA, MSX1, and TGFB3. RESULTS: Transmission distortion for alleles of MSX1 were demonstrated for the whole population and two missense mutations were identified, including one (P147Q) that is found in approximately 2% of the population. The P147Q appears to arise from a founder individual based on shared haplotypes in unrelated families. CONCLUSIONS: MSX1 contributes to nonsyndromic clefting in a Vietnamese population, and consistent with other studies, identifiable mutations in this gene cause about 2% of cases of nonsyndromic clefting.
PURPOSE: To identify causes of nonsyndromic cleft lip and palate in a Vietnamese population. METHODS: In this study, 175 families with at least one case of cleft lip and/or palate were studied using the candidate genes TGFA, MSX1, and TGFB3. RESULTS: Transmission distortion for alleles of MSX1 were demonstrated for the whole population and two missense mutations were identified, including one (P147Q) that is found in approximately 2% of the population. The P147Q appears to arise from a founder individual based on shared haplotypes in unrelated families. CONCLUSIONS:MSX1 contributes to nonsyndromic clefting in a Vietnamese population, and consistent with other studies, identifiable mutations in this gene cause about 2% of cases of nonsyndromic clefting.
Authors: Bridget M Riley; M Adela Mansilla; Jinghong Ma; Sandra Daack-Hirsch; Brion S Maher; Lisa M Raffensperger; Erilynn T Russo; Alexandre R Vieira; Catherine Dodé; Moosa Mohammadi; Mary L Marazita; Jeffrey C Murray Journal: Proc Natl Acad Sci U S A Date: 2007-03-06 Impact factor: 11.205
Authors: B M Riley; R E Schultz; M E Cooper; T Goldstein-McHenry; S Daack-Hirsch; K T Lee; E Dragan; A R Vieira; A C Lidral; M L Marazita; J C Murray Journal: Am J Med Genet A Date: 2007-04-15 Impact factor: 2.802
Authors: Kurt Reynolds; Shuwen Zhang; Bo Sun; Michael A Garland; Yu Ji; Chengji J Zhou Journal: Birth Defects Res Date: 2020-07-15 Impact factor: 2.344
Authors: Lina M Moreno; Maria Adela Mansilla; Steve A Bullard; Margaret E Cooper; Tamara D Busch; Junichiro Machida; Marla K Johnson; David Brauer; Katherine Krahn; Sandy Daack-Hirsch; Jamie L'heureux; Consuelo Valencia-Ramirez; Dora Rivera; Ana Maria López; Manuel A Moreno; Anne Hing; Edward J Lammer; Marilyn Jones; Kaare Christensen; Rolv T Lie; Astanand Jugessur; Allen J Wilcox; Peter Chines; Elizabeth Pugh; Kim Doheny; Mauricio Arcos-Burgos; Mary L Marazita; Jeffrey C Murray; Andrew C Lidral Journal: Hum Mol Genet Date: 2009-09-24 Impact factor: 6.150