Rothmund-Thomson综合征进展

Rothmund-Thomson综合征是一种少见的常染色体隐性遗传性皮肤病,主要特征为皮肤异色病、身材矮小、白内障、骨骼畸形和肿瘤易感性尤其是骨肉瘤.研究发现本病与DNA螺旋酶基因RECQL4突变有关,然而目前对RECQL4的分子功能及其相关的细胞途径尚知之甚少.将近年来该病在临床表现、基因研究情况、小鼠模型以及治疗等方面的最新进展进行分析,为下一步研究和治疗提供一些启示.

Advances in Rothmund-Thomson syndrome

Rothmund-Thomson syndrome(RTS)is an unusual autosornal recessive condition characterized by poikiioderma,short stature,juvenile cataract,and a predisposition to malignant tumors,particularly osteosarcomas.It has been found that this disease is associated with the mutations of RECQIA gene.To date.however,the molecular function and relevant cellular pathways of RECQL4 remain poorly understood.This article reviews the latest progress in the research about the elinical manifestations.involved genes.mouse models and therapy of RTS.which may provide some new ideas for further study and therapy.