一例PHKA2基因半合子变异所致糖原累积症Ⅸa患儿的遗传学分析  

Genetic analysis of a child with glycogen storage disease type Ⅸa due to a novel variant in PHKA2 gene

作　　者：赵干业 司文喆 赵学潮 刘莉娜 王聪慧 孔祥东[1] Zhao Ganye;Si Wenzhe;Zhao Xuechao;Liu Li′na;Wang Conghui;Kong Xiangdong(Genetics and Prenatal Diagnosis Center,Department of Obstetrics and Gynecology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China;Department of Laboratory Medicine,Peking University Third Hospital,Beijing 100191,China)

机构地区：[1]郑州大学第一附属医院妇产医学部遗传与产前诊断中心,郑州450052 [2]北京大学第三医院检验科,北京100191

出　　处：《中华医学遗传学杂志》2022年第9期988-991,共4页Chinese Journal of Medical Genetics

基　　金：郑州大学第一附属医院院内青年创新基金;河南省科技攻关计划(202102310391);郑州市科技惠民计划(2021KJHM0003)。

摘　　要：目的探讨一例糖原累积症患儿的遗传学病因并进行鉴别诊断。方法收集患儿及其父母的临床资料。通过高通量测序对患者糖原累积症相关基因进行变异位点筛查并Sanger测序验证,生物信息学方法对其致病性进行预测。结果高通量测序结果显示PHKA2基因(NM_000292)存在c.749C>T(p.S250L)半合子变异,Sanger测序验证其遗传自母亲。该变异尚未报道,经生物信息学分析为致病性变异。结论患儿为PHKA2基因c.749C>T(p.S250L)半合子变异引起的糖原累积症Ⅸa型患者,其母亲为携带者;本研究发现PHKA2基因的一个新变异,拓宽了其致病变异谱;高通量测序利于糖原累积症Ⅸa的早期准确鉴别诊断。Objective To explore the genetic etiology of a patient with glycogen storage diseases.Methods Clinical data of child and his parents were collected.The genes associated with glycogen storage diseases were subjected to high-throughput sequencing to screen the variants.Candidate variant was validated by Sanger sequencing.Pathogenicity of the variant was predicted by bioinformatic analysis.Results High-throughput sequencing results showed that the boy has carried a hemizygous c.749C>T(p.S250L)variant of the PHKA2 gene.Sanger sequencing verified the results and confirmed that it was inherited from his mother.This variant was unreported previously and predicted to be pathogenic by bioinformatic analysis.Conclusion The patient was diagnosed with glycogen storage disease typeⅨa due to a novel c.749C>T(p.S250L)hemizygous variant of the PHKA2 gene.High-throughput sequencing can facilitate timely and accurate differential diagnosis of glycogen storage disease typeⅨa.

关 键 词：PHKA2基因 糖原累积症Ⅸa 高通量测序 鉴别诊断 

分 类 号：R725.8[医药卫生—儿科]