ADULT Syndrome and Missense Mutations in Tp63 Gene

Abstract

ADULT syndrome is an ectodermal dysplasia disorder known as an autosomal dominant in-heritance. The clinical manifestations of ADULT syndrome comprise the development malformation of extremi-ties limbs, neurodermitis (including exfoliative dermatitis of the fingers and toes), asteatosis curls, hypoplasia or absence of the mammary gland and nipple, ectrodactyly to cutaneous or osseous syndactyly, onychodysplasia, lacrimal duct stenosis or atresia, hypohidrosis, hypodontia or early loss of permanent teeth, etc. This disease is attributed to missense mutations of)TP63 gene. TP63 gone plays an important role in the development of ecto-derm during the formation of embryo, and is especially critical in the development, differentiation and morpho-genesis of epidermis. Mutation analysis of Tp63 gene in patients with ADULT syndrome shows a missense muta-tion of single nucleotide in exons 3', 4, 6, 8. The clinical features of the patients with ADULT syndrome are different as they have different mutation positions in TP63 gene. Even the same mutation positions may lead to different clinical manifestations of patients due to geographical and individual differences. This review aims to summarize the TP63 gene mutations' association with the clinical features of ADULT syndrome. Key words: ADULT syndrome; Tp63 ; Mutation; Clinical feature