Wolfram-like综合征1例  

Wolfram-like syndrome:a case report

作　　者：朱白雪 张磊 王海燕 王茹 贾炜 Zhu Baixue;Zhang Lei;Wang Haiyan;Wang Ru;Jia Wei(Shaanxi Eye Hospital,Xi′an People′s Hospital(Xi′an Fourth Hospital),Xi′an 710004,China)

机构地区：[1]西安市人民医院(西安市第四医院)陕西省眼科医院,西安710004

出　　处：《中华眼科杂志》2024年第2期180-184,共5页Chinese Journal of Ophthalmology

基　　金：陕西省重点研发项目(2023-YBSF-537);陕西省自然科学基础研究计划项目(2022JM-514);白求恩·朗沐中青年眼科科研基金(BJ-LM2021011J)。

摘　　要：与经典的常染色体隐性Wolfram综合征不同,Wolfram-like综合征是一种由WFS1基因单个杂合变异引起的常染色体显性疾病。本例7岁男性儿童因体检时发现视力无法矫正来眼科就诊。患儿自幼听力差,行人工耳蜗植入术。眼科检查发现双眼视神经萎缩,其中相干光层析成像术(OCT)可见WFS1基因单一变异所特有的双眼外网状层增厚且结构异常分层。进一步行基因检测,患者WFS1基因单个杂合错义变异c.2051C>T(p.A684V),父母均未携带该变异,最终诊断为Wolfram-like综合征。Different from classical autosomal recessive Wolfram syndrome,Wolfram-like syndrome is an autosomal dominant disorder caused by a heterozygous mutation in the WFS1 gene.In this case,a 7-year-old male child presented to the eye clinic due to vision loss that could not be corrected,discovered during a routine examination.The child had experienced hearing impairment since early childhood,leading to cochlear implantation.Ophthalmic examination revealed optic disc atrophy in both eyes.Optical coherence tomography imaging demonstrated a distinctive thickening of the outer plexiform layer with abnormal layering,characteristic of a single mutation in the WFS1 gene.Subsequent genetic testing identified a de novo heterozygous missense mutation c.2051C>T(p.A684V)in the WFS1 gene,which ultimately led to the diagnosis of Wolfram-like syndrome.

关 键 词：视神经萎缩 膜蛋白质类 突变 误义 遗传关联研究 WOLFRAM综合征 

分 类 号：R725.9[医药卫生—儿科]