CLN5基因纯合突变致神经元蜡样脂褐质沉积症的近亲婚配家系分析  

Analysis of a consanguineous pedigree of neuronal ceroid lipofuscinosis caused by homozygous mutation of CLN5 gene

作　　者：景映忠 刘亚青[2] JING Yingzhong;LIU Yaqing(Department of Comprehensive ICU,Xigu Hospital of Lanzhou University Second Hospital,Lanzhou 730060,China;Department of Neurology,Lanzhou University Second Hospital)

机构地区：[1]兰州大学第二医院西固医院综合ICU,兰州730060 [2]兰州大学第二医院神经内科

出　　处：《山西医科大学学报》2024年第10期1347-1351,共5页Journal of Shanxi Medical University

摘　　要：目的 对一个一级表兄妹婚配的神经元蜡样脂褐质沉积症(NCL)家系进行临床表型和基因型分析。方法 回顾分析该家系中2例患者的临床特征,并采用全外显子测序、Sanger测序对患儿及其父母进行分子遗传学分析。结果 2例患者为一级表兄妹婚配的子代,均为女性,以难治性癫痫、进行性智力运动倒退、视力减退为主要表现。CLN5基因检查发现2例同胞姐妹为c.377G>A(p.Cys126Tyr)纯合突变,其父母该位点为杂合变异。结论 c.377G>A(p.Cys126Tyr)纯合突变是晚发婴儿型神经元蜡样脂褐质沉积症家系的分子发病机制,与先证者父母近亲结婚有关。Objective To analyze the clinical phenotype and genotype of a family with neuronal ceroid lipofuscinosis(NCL)resulting from consanguineous marriage.Methods The clinical characteristics of two patients in this family were retrospectively analyzed,and the molecular genetic analysis was performed on the children and their parents using whole‐exon sequencing and Sanger sequenc‐ing.Results Two patients were female offsprings of first‐cousin marriage,and mainly exhibited intractable epilepsy,progressive in‐tellectual and motor regression,and impaired vision.Molecular genetic analysis revealed that both siblings were homozygous mutation of c.377G>A(p.Cys126Tyr)in the CLN5 gene,while their father and mother were found to be heterozygous at this site.Conclusion The homozygous mutation of c.377G>A(p.Cys126Tyr)is implicated as the molecular pathogenesis of late infantile neuronal ceroid lipo‐fuscinosis within this family.This finding underscores the potential consequences associated with consanguineous marriages among pro‐band parents.

关 键 词：神经元脂褐质沉积症 纯合子 CLN5基因 近亲婚配 溶酶体 

分 类 号：R722.11[医药卫生—儿科]