一个Menkes病家系的临床特征及基因变异分析  

Analysis of Clinical Features and Genetic Mutations in a Family with Menkes Disease

作　　者：王越[1] 王怀立[1] 禚志红[1] WANG Yue;WANG Huaili;ZHUO Zhihong(Department of pediatrics,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院儿科,河南郑州450052

出　　处：《河南医学研究》2022年第15期2719-2722,共4页Henan Medical Research

摘　　要：目的探讨一个Menkes病(MD)家系的临床及致病基因变异特点。方法收集1例诊断为MD的患儿及其家系成员的临床及实验室检查资料,用全外显子测序技术检测患儿ATP7A基因变异,并对患儿及其父母进行一代测序验证变异位点。结果患病男婴于3个月时就诊,主要表现为头发发黄、卷曲,皮肤发白,肌张力低下,抽搐发作、神经系统发育落后,铜、铜蓝蛋白均降低。头颅MRI平扫提示额颞部硬膜下积液。全外显子测序发现患儿X染色体ATP7A基因(NM_000052)第10外显子存在半合子变异,为c.2284_2285dupTT(p.Leu762Phefs*2),属于致病变异,且国内外尚未见报道。结论讨论了1例MD患者的临床特点,丰富了ATP7A基因变异谱。Objective To investigate the clinical characteristics of a family with Menkes disease(MD)and the variants of its gene.Methods The clinical and laboratory data of a child with MD and his family members were retrospectively analyzed.Whole-exome sequencing was used to detect the ATP7A gene variants of the child.Suspected variants in this child and his family were verified by Sanger sequencing.Results The diseased child was diagnosed when he was three months old,whose main manifestations were yellow and curly hair,white skin,hypotonia,seizures,neurodevelopmental delays,low serum copper and ceruloplasmin concentration.The MRI showed a subdural effusion in the frontotemporal area.A maternal hemizygous variant c.2284_2285dupTT(p.Leu762Phefs*2),which was a pathogenic variation and not reported previously,was identified in the exon 10 of ATP7A gene in X chromosome of patient by whole-exome sequencing.Conclusion The clinical and laboratory characteristics of a patient with MD were clarified,and expanded the ATP7A gene spectrum.

关 键 词：MENKES病 ATP7A基因 全外显子测序 铜蓝蛋白 

分 类 号：R725.9[医药卫生—儿科]