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Abstract：
The TP63 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 TP63 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.
摘要：
TP63基因已在5种重叠肢体畸形疾病中被描述，包括一种罕见的常染色体显性遗传外胚层疾病，称为肩皮肤-指甲-泪腺-牙齿（ADULT）综合征。本文介绍了2例与外胚层发育不良/ADULT综合征相关的外胚层畸形和可变特征的患者，和TP63基因的rs16864880多态性，这在他们的父母中是不存在的。讨论了这种变体在这种情况发生中的作用，根据对40起案件的审查。结果提示rs16864880可能与ADULT综合征无直接关系。然而,不可能排除其参与肢体发育途径的基因相互作用。
