PNPLA6基因复合杂合突变引起的Boucher-Neuhauser综合征一例并文献分析  

Boucher-Neuhauser syndrome caused by compound heterozygous mutations： a case report and literature review

作　　者：丁铭 顾卫红[2] 张瑾[2] 李争运 张鑫[2] 郝莹 蔡颖[3] 曹永跃[3] 张占辉 Ding Ming , Gu Weihong, Zhang Jin, Li Zhengyun, Zhang Xin, Hao Ying, Cai Ying, Cao Yongyue, Zhang Zhanhui(College of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing 100029, Chin)

机构地区：[1]北京中医药大学中医学院,100029 [2]中日友好医院运动障碍与神经遗传病研究中心 [3]中日友好医院检验科 [4]北京金准基因科技有限责任公司

出　　处：《中华神经科杂志》2018年第3期181-186,共6页Chinese Journal of Neurology

基　　金：卫生部部属(管)医院2010-2012年度临床学科重点项目

摘　　要：目的结合相关文献探讨Boucher-Neuhauser综合征（Boucher-Neuhauser syndrome，BNS）患者的临床特征和基因检测结果，以助于临床诊断。方法对1例BNS患者采集临床表型，进行相关实验室检验、神经影像学检查与基因检测，同时结合文献分析BNS特点。结果本例患者为青年男性，以震颤、共济失调、第二性征发育不良、癫痫为主要表现，呈缓慢进展性病程。头颅MRI提示小脑重度萎缩，基因检测发现为编码神经靶酯酶的PNPLA6基因复合杂合突变，即18号外显子c.1811C〉T（p.A604V）和28号外显子c.2990C〉T（p.S997L），分别来自其父母。其中c.1811C〉T突变未见文献报道，c．2990C〉T突变已报道为与BNS相关的致病突变。结论以青少年起病，表现为震颤、共济失调合并第二性征发育不良、癫痫等症状时，需考虑PNPLA6基因相关的BNS可能。ObjectiveTo investigate the clinical manifestations, genetic basis and related literatures of Boucher-Neuhauser syndrome （BNS）, hoping to help physicians recognize this rare disease.MethodsA 25-year-old BNS patient was reported. The clinical manifestations and the laboratory data including fundus examination, blood testing, brain MRI and genetic data were summarized. The related literatures were also reviewed.Results The patient presented with tremors, ataxia, secondary sexual characteristics dysplasia, epilepsy, and then got worse progressively. Brain MRI showed severe cerebellar atrophy. Two mutations of PNPLA6 gene were found： one is the heterozygous mutation c. 1811C〉T（p.A604V）, which has not been reported; another is c. 2990C〉T（p.S997L）, which has been reported as a pathogenic mutation related to BNS.ConclusionPNPLA6-related BNS may be considered for adolescent patients with tremor and ataxia, secondary sexual characteristics dysplasia and epilepsy.

关 键 词：PNPLA6基因 Boucher—Neuhauser综合征 震颤 癫痫 小脑萎缩 共济失调 

分 类 号：R742[医药卫生—神经病学与精神病学]