一例小儿肝衰竭综合征2型患儿的临床特征及基因变异分析  

Clinical features and genetic testing of a child with hepatic failure syndrome type 2

作　　者：姜涛[1] 欧阳文献[1] 谭艳芳[1] 唐莲[1] 张慧[1] 李双杰[1] Jiang Tao;Ouyang Wenxian;Tan Yanfang;Tang Lian;Zhang Hui;Li Shuangjie(Shuangjie Center of Hepatopathy, Hunan Children's Hospital,Changsha,Hunan 410007,China)

机构地区：[1]湖南省儿童医院肝病中心,长沙410007

出　　处：《中华医学遗传学杂志》2022年第2期181-184,共4页Chinese Journal of Medical Genetics

摘　　要：目的分析1例小儿肝衰竭综合征2型患儿的临床特征及基因变异特点, 探讨其分子遗传学发病机制。方法对1例小儿肝衰竭综合征2型患儿进行临床特点总结、二代测序及基因致病性分析。结果发现患儿NBAS基因存在复合杂合变异, 包括一个位于第24外显子的新杂合无义变异c.2746A>T(p.R916X, 1456)与一个已知的第31外显子c.3596G>A(p.C1199Y)错义变异, 患儿父亲携带c.2746A>T杂合变异, 母亲携带c.3596G>A杂合变异, 患儿的变异分别源自其父亲和母亲。经检索发现c.2746A>T变异为未报道过的新变异, c.3596G>A变异为已报道与小儿肝衰竭综合征2型相关的变异。结论 NBAS基因c.3596G>A和c.2746A>T变异是该小儿肝衰竭综合征2型患儿的致病原因。Objective To explore the genetic basis for a child with infantile liver failure syndrome type 2(ILFS type 2).Methods Clinical features of the child were analyzed.Next generation sequencing was also carried out for him.Results The child was found to harbor compound heterozygous variants of the NBAS gene,which included a novel nonsense c.2746A>T(p.R916X,1456)variant in exon 24 and a missense c.3596G>A(p.C1199Y)mutation in exon 31,which has been associated with ILFS type 2.The two variants were respectively inherited from his father and mother.Conclusion The compound heterozygous variants of c.3596G〉A and c.2746A>T of the NBAS gene probably underlay the ILFS type 2 in this child.

关 键 词：小儿肝衰竭综合征2型 二代测序 NBAS基因 

分 类 号：R725.7[医药卫生—儿科]