Menkes病1例家系报道并中国临床表型和基因型文献复习

A case of Menkes disease has been reported and literature review on clinical phenotypes and genotypes in China has been conducted

目的探讨中国Menkes病患儿的临床表型及基因型。方法回顾性分析Menkes病一家系,并复习国内文献报道的40例Menkes病患儿的临床表型和基因型。结果 Menkes病临床表型:男性100%,运动发育落后100%,头发异常表型(稀疏,卷曲)100%,皮肤白皙和惊厥发作92.7%(38/41),平均惊厥发生年龄(3.25±1.43)个月,平均死亡年龄(15.0±12.1)个月。血清铜或铜蓝蛋白降低100%。基因型:ATP7A突变类型包括大片段缺失、错义突变、无义突变、剪切位点突变。结论中国Menkes病临床表型具有明显的特征性,临床一致性高,基因型为多种突变类型,推荐全外显子的二代高通量测序加多重连接探针扩增技术为基因检测方法。

Objective To investigate the clinical phenotype and genotype of Menkes disease in China. Methods A retrospective analysis of a department of Menkes disease was conducted. The clinical phenotypes and genotypes of 40 children with Menkes disease in China were reviewed.Results The clinical phenotype of Menkes disease: male 100%, delayed psychomotordevelopment 100%, abnormalhair phenotype(sparse,curly)100%, and light skinand severe epilepsies 92.7%(38/41). The average onset age of epilepsies was(3.25±1.43) months, and the average age of death was(15.0±12.1) months. Serum copper concentration or ceruloplasmin concentration decreased by 100%. Genotype: ATP7 A mutation types include large fragment deletion, missense mutation, nonsense mutation and splicing site mutation. Conclusion The clinical phenotype of Menkes disease in China has obvious characteristics and high clinical consistency, and the genotype is a variety of mutant types. The next-generation high-through put sequencing of total Exons plus multiplex ligation-dependent probe amplification technology(MLPA) is recommended for gene detection.