期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 170, 期 1, 页码 254-259出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.37417
关键词
MSX1; cleft lip and palate; cleft palate; hypodontia; microdontia; dens invaginatus; polydactyly; limb development; BMP
资金
- Thailand Research Fund (TRF)
- Faculty of Dentistry, Chiang Mai University
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. (C) 2015 Wiley Periodicals, Inc.
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