泛发性雀斑样痣的临床特征及遗传机制

Clinical features and genetic mechanisms of generalized lentiginosis

泛发性雀斑样痣(GL)是一类常染色体显性遗传病,临床表现以多发性黑子合并心血管疾病、智力发育迟缓、神经性耳聋、头面骨发育异常、性腺发育不全、体格矮小等异常。目前研究表明GL患者的发病主要与PTPN11、BRAF、RAF1、SASH1致病基因突变有关。本文对GL的遗传学研究进展进行综述。

Generalized lentiginosis is an autosomal dominant inherited disorder caused by mutations in the PTPN11, RAF1, BRAF, and SASH1 genes. Its characteristic features include lentigines with cardiovascular disease, mental retardation, neurological deafness, craniofacial dysmorphism, gonadal hypoplasia, short physique, and other abnormalities. In this article, we review the progress in the understanding of the genetics of generalized lentiginosisi.