Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Craniofacial Genetics Laboratory, Chiang Mai University, Thailand.
Am J Med Genet A. 2011 May;155A(5):1119-22. doi: 10.1002/ajmg.a.33840. Epub 2011 Apr 11.
WNT10A has been associated with various syndromes with ectodermal dysplasia from severe autosomal recessive SchO?pf-Schulz-Passarge syndrome to odonto-onycho-dermal dysplasia and autosomal dominant hypodontia. We report WNT10A mutations in an American family of which four members are affected with isolated hypodontia or microdontia. Here we demonstrate that in addition to MSX1, PAX9, AXIN2, and EDA, mutations in WNT10A can cause isolated hypodontia.
WNT10A 与各种外胚层发育不良综合征有关，从严重的常染色体隐性 Scho?pf-Schulz-Passarge 综合征到牙-甲-齿发育不良和常染色体显性少牙症。我们报告了一个美国家族的 WNT10A 突变，其中有 4 名成员患有孤立性缺牙症或小牙症。在这里，我们证明除了 MSX1、PAX9、AXIN2 和 EDA 之外，WNT10A 的突变也可以导致孤立性缺牙症。
