title: Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations.
abstract: We report two novel heterozygous missense MSX1 mutations in two Thai families (c.739C>T; p.Pro247Ser and c.607G>A; p.Ala203Thr). The p.Ala203Thr mutation was found in a female patient, her sister, and their father and is associated with unilateral cleft lip and palate, hypodontia, and microdontia. The p.Pro247Ser mutation was found in a three-generation Thai family and was associated with bilateral cleft lip and palate, hypodontia, microdontia, and dens invaginatus. The proband also had preaxial polydactyly of the left hand. The role of Msx1 in limb development in mice is discussed. Intrafamilial variability of the phenotypes is clearly evident. This is the first time that a limb anomaly has been reported to be associated with a mutation in MSX1.
authors.affiliation: Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand.|Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.
authors.forename: Onnida
authors.initials: O
authors.lastname: Wattanarat
authors.affiliation: Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand.|Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.|DENTALAND CLINIC, Chiang Mai, Thailand.
authors.forename: Piranit Nik
authors.initials: PN
authors.lastname: Kantaputra
mesh_terms: D000567:Amelogenesis Imperfecta / Q000235:genetics; D000818:Animals; D000848:Anodontia / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D005260:Female; D006801:Humans; D051957:MSX1 Transcription Factor / Q000235:genetics*; D008297:Male; D051379:Mice; D020125:Mutation, Missense / Q000235:genetics*; D017689:Polydactyly / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013785:Thailand; D013933:Thumb / Q000002:abnormalities*
chemical_list: D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human
keywords: BMP; MSX1; cleft lip and palate; cleft palate; dens invaginatus; hypodontia;microdontia; limb development; polydactyly