首诊为Usher综合征的轻型Zellweger谱系障碍1例  

A case of mild Zellweger spectrum disorder first diagnosed as Usher syndrome

作　　者：仲俊维 叶汉文 许可 谢玥 张晓慧 李杨 Zhong Junwei;Ye Hanwen;Xu Ke;Xie Yue;Zhang Xiaohui;Li Yang(Beijing Tongren Eye Center,Beijing Tongren Hospital,Capital Medical University,Beijing Institute of Ophthalmology,Beijing Key Laboratory of Ophthalmology&Visual Sciences,Beijing 100730,China)

机构地区：[1]首都医科大学附属北京同仁医院北京同仁眼科中心北京市眼科研究所北京市眼科学与视觉科学重点实验室,北京100730

出　　处：《中华眼科杂志》2022年第10期788-792,共5页Chinese Journal of Ophthalmology

基　　金：国家自然科学基金(81570886)。

摘　　要：患儿女性,5岁,因“夜盲、听力差1年”就诊,因视网膜色素变性合并感音神经性耳聋,首诊为Usher综合征。目标区域捕获测序分析发现患儿携带Zellweger谱系障碍致病基因PEX1复合杂合变异c.5G>A,p.W2*/c.3022C>T,p.P1008S。后期随访发现患儿恒牙釉质发育不良,指甲白斑,过氧化物酶体功能生化异常,诊断为轻型Zellweger谱系障碍。A 5‑year‑old female patient,presented with"night blindness and poor hearing for 1 year"whose first diagnosis was Usher syndrome due to retinitis pigmentosa accompanied by sensorineural deafness.Compound heterozygous variants(c.5G>A,p.W2*/c.3022C>T,p.P1008S)of PEX1,the causative gene for Zellweger spectrum disorder was confirmed by targeted exome sequencing analysis.Permanent tooth enamel dysplasia,nail leukoplakia,and biochemical abnormalities of peroxisome which is consistent with mild Zellweger spectrum disorder were found when she followed up.

关 键 词：USHER综合征 Zellweger综合征 多种细胞活动相关性ATP酶类 膜蛋白质类 

分 类 号：R774.1[医药卫生—眼科] R764.43[医药卫生—临床医学]