一个Menkes病家系的临床特点及基因突变分析  

Analysis of clinical features and genetic mutations in a Chinese family affected with Menkes disease

作　　者：施晓容[1] 林希[1] 柯钟灵 陈素清[1] 吴斌[1] 莫桂玲[2] 

机构地区：[1]福建医科大学附属第一医院儿科,福州350005 [2]广州金域医学检验中心分子遗传室,510330

出　　处：《中华医学遗传学杂志》2017年第2期220-223,共4页Chinese Journal of Medical Genetics

摘　　要：目的探讨1个Menkes病家系的临床特点，并分析其ATP7A基因的突变情况。方法对1例拟诊为Menkes病的患者及其家系成员的临床资料进行分析，并应用Sanger测序与多重连接探针扩增技术对患者的ATP7A基因进行突变分析。结果患病男婴于5个月时就诊，主要表现为抽搐及智力运动发育落后、面色苍白、毛发稀疏、卷曲等，血浆铜蓝蛋白显著降低，颅脑磁共振扫描示蛛网膜下腔增宽、白质髓鞘异常，磁共振血管造影示颅内多发迂曲血管。基因突变分析发现其ATP7A基因第8～12外显子缺失。其母亲为相同缺失突变的携带者。结论明确了1例Menkes病患者的临床及基因突变特点，发现了一种ATP7A基因新突变。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.

关 键 词：MENKES病 临床表现 基因突变 

分 类 号：R440[医药卫生—诊断学] R725.9[医药卫生—临床医学]