ADULT综合征与Tp63基因突变

ADULT综合征是一种外胚层发育异常疾病,属常染色体显性遗传,临床表现为四肢发育畸形、神经性皮炎改变(包括指/趾剥脱性皮炎)、皮肤干燥、乳腺和乳头发育不全或缺失、缺指(趾)畸形和并指症、指(趾)甲发育异常、泪管闭锁、少汗、牙齿发育不全等症状,该病由Tp63基因错义突变所引起.Tp63基因主要在各种上皮组织的发育、分化和形态发生过程中起作用,对于胚胎形成过程的外胚层发育具有重要的意义.研究发现ADULT综合征与Tp63基因外显子3'、4、6、8的核苷酸发生错义突变相关.Tp63基因的突变位点不同导致临床表现存在差异,即使突变位点相同,患者的临床表现还存在地域、种族和个体差异.本文就ADULT综合征的临床表现与Tpi3基因突变的关系进行综述.

ADULT Syndrome and Missense Mutations in Tp63 Gene

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.