一名中国沃尔弗拉姆综合征患者中WFS1基因的新型突变：病例报告

A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report.

作者信息

Li Min, Liu Jia, Yi Huan, Xu Li, Zhong Xiufeng, Peng Fuhua

机构信息

Multiple Sclerosis Center, Department of Neurology, the Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, 510630, China.

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen Univeristy, Guangzhou, Guangdong, 510060, China.

出版信息

BMC Pediatr. 2018 Mar 17;18(1):116. doi: 10.1186/s12887-018-1091-1.

DOI:10.1186/s12887-018-1091-1

PMID:29549887

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5857142/

Abstract

BACKGROUND

Wolfram syndrome (WS), caused by mutations of the Wolfram syndrome 1 (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and urinary tract anomalies.

CASE PRESENTATION

Here we report a 11-year-old Chinese boy who presented with visual loss, was suspected with optic neuritis (ON) or neuromyelitis optica (NMO) and referred to our department for further diagnosis. Finally he was diagnosed with WS because of diabetes mellitus (DM) and optic atrophy (OA). Eight exons and flanking introns of WFS1 gene were analyzed by sequencing. A novel mutation c.1760G > A in WFS1 gene of exon 8 was identified.

CONCLUSION

This report reviews a case of WS associated with a novel mutation, c.1760G > A in WFS1 gene of exon 8, and emphasizes that WS should be taken into account for juveniles with visual loss and diabetes mellitus.

摘要

背景

沃尔弗拉姆综合征（WS）由4号染色体p16.1上的沃尔弗拉姆综合征1（WFS1）基因突变引起，是一种常染色体隐性疾病，其特征为尿崩症（DI）、神经精神障碍、听力缺陷和泌尿系统异常。

病例报告

我们在此报告一名11岁中国男孩，他出现视力丧失，被怀疑患有视神经炎（ON）或视神经脊髓炎（NMO），并转诊至我科进行进一步诊断。最终，由于糖尿病（DM）和视神经萎缩（OA），他被诊断为WS。通过测序分析了WFS1基因的8个外显子及其侧翼内含子。在第8外显子的WFS1基因中鉴定出一个新的突变c.1760G＞A。