[一个患有门克斯病的中国家系的临床特征与基因突变分析]
[Analysis of clinical features and genetic mutations in a Chinese family affected with Menkes disease].
作者信息
Shi Xiaorong, Lin Xi, Ke Zhonglin, Chen Shuqing, Wu Bin, Mo Guiling
机构信息
Department of Pediatrics, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350005, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):220-223. doi: 10.3760/cma.j.issn.1003-9406.2017.02.015.
OBJECTIVE
To delineate the clinical features and potential mutation of the ATP7A gene in a family affected with Menkes disease.
METHODS
Clinical data of a patient and his family members were analyzed. Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assays were performed to detect the mutation of the ATP7A gene.
RESULTS
The patient was admitted at the age of 5 months due to severe epilepsy and marked delayed psychomotor development. Significantly light complexion, pudgy cheeks and sparse fuzzy wooly hair were noted. Cranial magnetic resonance imaging and angiography revealed cortical atrophy, leukoencephalopathy and circuitous of intracranial vessels. The plasma ceruloplasmin was decreased. MLPA has identified a deletion spanning exons 8 to 12 of the ATP7A gene. His mother was found to be a heterozygous carrier of the same mutation.
CONCLUSION
The clinical features and a novel mutation of the ATP7A gene of the family have been delineated.
目的
明确患门克斯病的一个家系中ATP7A基因的临床特征及潜在突变。
方法
分析一名患者及其家庭成员的临床资料。采用桑格测序和多重连接依赖探针扩增（MLPA）检测法检测ATP7A基因的突变。
结果
该患者5个月大时因严重癫痫和明显的精神运动发育迟缓入院。可见肤色明显变浅、脸颊丰满及毛发稀疏且呈绒毛状。头颅磁共振成像和血管造影显示皮质萎缩、白质脑病及颅内血管迂曲。血浆铜蓝蛋白降低。MLPA检测发现ATP7A基因第8至12外显子存在缺失。其母亲被发现为该相同突变的杂合携带者。
结论
已明确该家系中ATP7A基因的临床特征及一种新的突变。
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