Wiedemann-Steiner综合征的基因变异与临床特点分析

目的:总结分析6例Wiedemann-Steiner综合征（WDSTS）患儿的临床特点及基因变异情况。方法:回顾性分析2017年4月至2021年2月就诊于江西省儿童医院内分泌遗传代谢科及萍乡市妇幼保健院儿童保健科的6例WDSTS患儿的一般情况，临床表现，生长激素等实验室检查，头颅或垂体磁共振成像（MRI）等影像学检查，...

Analysis of gene variation and clinical characteristics of Wiedemann-Steiner syndrome

Objective To summarize and analyze the clinical characteristics and gene mutations of 6 patients with Wiedemann-Steiner syndrome(WDSTS).Methods To review and analyze the clinical data,including general conditions,clinical manifestations,growth hormone,cranial or pituitary gland magnetic resonance imaging(MRI),gene results and other data,6 cases with WDSTS admitted to the Department of Endocrinology,Genetics and Metabolism of Jiangxi Provincial Children′s Hospital and the Department of Child Care of Pingxiang Maternity and Child Care from April 2017 to February 2021 were recruited.Results Of the 6 patients,2 were male and 4 were female.The age of the first visit ranged from 1.0 to 11.2 years.All the 6 children presented with growth retardation and mental retardation and they all had typical facial dysmorphism and hypertrichosis(mainly on the back and limbs).Among them,case 5 had a growth hormone deficiency,and case 2 and 4 had abnormalities revealed by cranial MRI.Variations in KMT2A gene were identified in these 6 patients:c.10900+2T>C,c.10837C>T(p.Gln3613*),c.4332G>A(p.E1444E),c.2508dupC(p.W838Lfs*9),c.11695_11696delinsT(p.T3899Sfs*73),c.9915dupA(p.P3306Tfs*22).Among these variations,c.4332G>A,c.11695_11696delinsT and c.9915dupA were novel mutations.Therefore,the final diagnosis of these patients was WDSTS.Conclusions Patients presented with short stature and mental retardation,typical facial dysmorphism and hypertrichosis should be considered WDSTS.Whole-exome sequencing plays an important role in disease diagnosis and genetic counseling.