Kawasaki de Araujo Tânia, Lustosa-Mendes Elaine, Dos Santos Ana P, Coelho Molck Miriam, Mazzariol Volpe-Aquino Roberta, Gil-da-Silva-Lopes Vera L
Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
Mol Syndromol. 2017 Jun;8(4):201-205. doi: 10.1159/000470025. Epub 2017 Apr 13.
The gene has been described in 5 overlapping limb malformation disorders, including a rare autosomal dominant ectodermal disorder named acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome. This article describes 2 patients with ectrodactyly and variable features related to ectodermal dysplasia/ADULT syndrome, and the polymorphism rs16864880 in the gene, which was not present in their parents. The role of this variant in the genesis of this condition is discussed, based upon a review of 40 cases. The results suggested that rs16864880 may not be directly related to ADULT syndrome. However, it is not possible to exclude its participation in gene interactions in the limb development pathway.
该基因已在5种重叠的肢体畸形疾病中被描述，包括一种罕见的常染色体显性外胚层疾病，名为肢端-皮肤-甲-泪腺-牙齿（ADULT）综合征。本文描述了2例患有缺指（趾）畸形以及与外胚层发育异常/ADULT综合征相关的可变特征的患者，以及该基因中的多态性rs16864880，其父母中不存在该多态性。基于对40例病例的回顾，讨论了该变体在这种疾病发生中的作用。结果表明，rs16864880可能与ADULT综合征没有直接关系。然而，不能排除其参与肢体发育途径中的基因相互作用。
