Prontera P, Escande F, Cocchi G, Donti E, Martini A, Sensi A
University of Perugia, Department of Clinical and Experimental Medicine, Medical Genetics Unit, Perugia, Italy.
Genet Couns. 2008;19(4):397-402.
The ankyloblepharon-ectodermal defects-cleft lip and palate (Hay-Wells or AEC) and the Rapp-Hodgkin syndrome (RHS) are rare autosomal dominant ectodermal dysplasias due to mutations in the transcription factor gene P63. Both are caused by mutations affecting SAM or TID domains of TP63 protein. The two disorders share common features and may represent different phenotypic expressions of the same clinical entity. To date more than 20 P63 mutations have been described associated with AEC and RHS, the majority of which are missense or nonsense mutations. Molecular heterogeneity cannot account for the clinical heterogeneity, because the same mutations were observed both in patient with RHS and with AEC syndrome. Here we report on a novel P63 mutation (the first repeat variation described in the gene) in a patient showing overlapping phenotype of AEC and RH syndromes.
睑缘粘连-外胚层缺陷-唇腭裂（海-韦综合征或AEC综合征）和拉普-霍奇金综合征（RHS）是罕见的常染色体显性外胚层发育不良疾病，由转录因子基因P63突变引起。二者均由影响TP63蛋白SAM或TID结构域的突变所致。这两种疾病具有共同特征，可能代表同一临床实体的不同表型表达。迄今为止，已描述了20多种与AEC和RHS相关的P63突变，其中大多数为错义或无义突变。分子异质性无法解释临床异质性，因为在RHS患者和AEC综合征患者中均观察到相同的突变。在此，我们报告一名表现出AEC和RH综合征重叠表型的患者中存在一种新的P63突变（该基因中描述的首个重复变异）。
