三例戊二酸血症Ⅰ型患儿的临床特点及GCDH基因变异分析  

Analysis of CGDH gene variants and clinical features in three patients with glutaric aciduria type Ⅰ

作　　者：谭建强 陈大宇 严提珍 黄钧 蔡稔 Tan Jianqiang;Chen Dayu;Yan Tizhen;Huang Jun;Cai Ren(Department of Medical Genetics,Liuzhou Maternal and Child Health Care Hospital,Liuzhou,Guangxi 545001,China)

机构地区：[1]柳州市妇幼保健院医学遗传科、柳州市出生缺陷预防与控制重点实验室,广西545001

出　　处：《中华医学遗传学杂志》2019年第9期882-885,共4页Chinese Journal of Medical Genetics

基　　金：广西壮族自治区卫生和计划生育委员会科研课题(Z2016547,Z20170530);柳州市科学研究与技术开发计划项目(2014G020404);柳州市应用技术研究与开发计划项目(2017BH20313,2018AF10501).

摘　　要：目的 对3例临床拟诊为戊二酸血症I型(glutaric aciduria typeⅠ,GA-Ⅰ)的患儿的临床特点及GCDH基因进行变异分析,为其家系的遗传咨询及产前诊断提供依据.方法 应用直接测序法对患儿及家系成员进行GCDH基因变异检测.结果Sanger测序结果显示例1 GCDH基因存在c.532G>A(p.Gly178Arg)和c.655G>A(p.Ala219Thr)复合杂合变异,父亲携带c.532G>A(p.Gly178Arg)杂合变异,母亲携带c.655G>A(p.Ala219Thr)杂合变异;例2 GCDH基因存在c.532G>A(p.Gly178Arg)和c.1060 G>T(p.Gly354Cys)复合杂合变异,父亲携带c.532G>A(p.Gly178Arg)杂合变异,母亲携带c.1060G>T(p.Gly354Cys)杂合变异;例3 GCDH基因存在c.532G>A(p.Gly178Arg)纯合变异,父母均为c.532G>A(p.Gly178Arg)杂合变异携带者.因此3例患儿的变异均分别来自其父母.其中c.1060G>T变异为未报道过的新变异.结论 GCDH 基因变异为 3 例患儿的致病原因,新变异的发现丰富了 GCDH 基因变异谱.Objective To screen for potential variants of GCDH gene in 3 patients clinically diagnosed as glutaric aciduria typeⅠ.Methods GCDH gene variants was detected by Sanger sequencing among the three children and their family members.Results Sanger sequencing showed that patient 1 carried compound heterozygosity variants of c.532G>A(p.Gly178Arg)and c.655G>A(p.Ala219Thr)of the GCDH gene,while his father and mother respectively carried heterozygous c.532G>A(p.Gly178Arg)and c.655G>A(p.Ala219Thr)variants.Patient 2 carried c.532G>A(p.Gly178Arg)and a novel c.1060G>T(p.Gly354Cys)compound heterozygous variant,while his father and mother respectively carried heterozygous c.532G>A(p.Gly178Arg)and c.1060G>T(p.Gly354Cys)variant.Patient 3 carried homozygous c.532G>A(p.Gly178Arg)variant of the GCDH gene,for which both of his parents were heterozygous carriers.Conclusion The GCDH gene variant probably underlie the glutaric aciduria typeⅠamong the 3 patients.Identifcation of the novel variant has enriched the spectrum of GCDH gene variants.

关 键 词：戊二酸血症Ⅰ型 戊二酰辅酶A脱氢酶 遗传代谢病 GCDH基因 

分 类 号：R5[医药卫生—内科学]