Wolfram综合征一家系的临床及遗传学分析  

Clinical and genetic analysis of a pedigree with Wolfram syndrome

作　　者：陈子杰 毛禹凯 樊宁[3] 洪燕芬 刘旭阳 Zi-Jie Chen;Yu-Kai Mao;Ning Fan;Yan-Fen Hong;Xu-Yang Liu(Xiamen Eye Center of Xiamen University,Xiamen 361000,Fujian Province,China;School of Medical Technology and Engineering,Fujian Medical University,Fuzhou 350122,Fujian Province,China;Shenzhen Eye Hospital,Jinan University,Shenzhen 518040,Guangdong Province,China)

机构地区：[1]厦门大学附属厦门眼科中心,中国福建省厦门市361000 [2]福建医科大学医学技术与工程学院,中国福建省福州市350122 [3]中国广东省深圳市眼科医院、暨南大学附属深圳眼科医院,518040

出　　处：《国际眼科杂志》2023年第11期1930-1934,共5页International Eye Science

基　　金：国家自然科学基金资助项目(No.82070963,82271087);深圳市科技计划项目(No.JCYJ20190807153005579)。

摘　　要：目的:研究由WFS1基因突变所导致的常染色体隐性遗传Wolfram综合征的临床特征和遗传学背景。方法:应用临床检查,基因分析和生物信息学方法研究一常染色体隐性遗传Wolfram综合征家系。结果:发现先证者及哥哥患糖尿病、色弱及视神经病变,此外其兄患尿崩症。全外显子组分析显示在兄弟二人的WFS1基因8号外显子存在两种杂合变异,即c.941G>A(p.W314X)和c.2309T>G(p.F770C),并在该家系中与临床表型共分离。结论:WFS1基因的复合杂合突变与该家系Wolfram综合征相关,其中c.941G>A(p.W314X)尚未见报道。AIM:To investigate the clinical features and genetic background of autosomal recessive Wolfram syndrome caused by WFS1 gene mutation.METHODS:A pedigree with autosomal recessive Wolfram syndrome was studied by clinical examination,gene analysis and bioinformatics.RESULT:It was found that the proband and his brother had diabetes,color weakness and optic neuropathy.In addition,his brother had diabetes insipidus.Whole-exome sequencing(WES)analysis showed that there were two heterozygous variations in the WFS1 gene exon 8 of the two brothers:c.941G>A(p.W314X)and c.2309T>G(p.F770C),and were co-separated from the clinical phenotype in this family.CONCLUSION:The compound heterozygous mutation of WFS1 gene is associated with Wolfram syndrome in this pedigree.Among them,c.941G>A(p.W314X)has not been reported yet.

关 键 词：WOLFRAM综合征 WFS1基因 遗传学分析 突变 

分 类 号：R596.1[医药卫生—内科学]