CAJ | 학술논문

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.
Rothmund-Thomson종합정시일충소견적상염색체은성유전성피부병,주요특정위피부이색병、신재왜소、백내장、골격기형화종류역감성우기시골육류.연구발현본병여DNA라선매기인RECQL4돌변유관,연이목전대RECQL4적분자공능급기상관적세포도경상지지심소.장근년래해병재림상표현、기인연구정황、소서모형이급치료등방면적최신진전진행분석,위하일보연구화치료제공일사계시.
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.