LHCGR新变异致Leydig细胞发育不全患儿的基因诊断  

Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene

作　　者：夏俊珂 李泸平[2] 段富华 孟静静[1] 严淑萍[3] 李晟磊[3] 任华艳 孔祥东[1] Xia Junke;Li Luping;Duan Fuhua;Meng Jingjing;Yan Shuping;Li Shenglei;Ren Huayan;Kong Xiangdong(Prenatal and Genetic Diagnosis Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450002,China;Department of Pediatric Surgery,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450002,China;Department of Pathology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450002,China)

机构地区：[1]郑州大学第一附属医院遗传与产前诊断中心,450002 [2]郑州大学第一附属医院小儿外科,450002 [3]郑州大学第一附属医院病理科,450002

出　　处：《中华医学遗传学杂志》2020年第8期819-822,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。

摘　　要：目的:分析1例Leydig细胞发育不全患儿的临床特征和LHCGR基因变异,明确其遗传学病因,为家系的遗传咨询和产前诊断提供依据。方法:应用全外显子测序技术检测患儿的致病基因,应用PCR结合Sanger测序的方法进行家系验证和产前诊断。结果:测序结果显示患儿的LHCGR基因存在c.265A>T(p.Ile189Leu)和c.422T>C(p.Val141Ala)复合杂合变异,其父亲携带c.265A>T(p.Ile189Leu)杂合变异,母亲携带c.422T>C(p.Val141Ala)杂合变异,患儿的2个变异分别来源于父亲和母亲。产前诊断结果显示胎儿为LHCGR基因c.265A>T(p.Ile189Leu)杂合变异携带者。结论:LHCGR基因c.265A>T(p.Ile189Leu)和c.422T>C(p.Val141Ala)变异可能为患者的致病原因。Objective To explore the genetic basis for a patient with Leydig cell hypoplasia.Methods Whole exome sequencing was used to detect genetic variants in the patient.Suspect variants were verified by PCR and Sanger sequencing of the family members.Results The patient was found to carry two novel variants,namely c.265A>T(p.Ile189Leu)and c.422T>C(p.Val141Ala),of the luteinizing hormone receptor gene(LHCGR),where were respectively inherited from her father and mother.Upon prenatal diagnosis,the fetus was found to be a heterozygous carrier of the c.265A>T(p.Ile189Leu)variant.Conclusion The compound heterozygous variants of c.265A>T(p.Ile189Leu)and c.422T>C(p.Val141Ala)of the LHCGR gene probably underlie the Leydig cell hypoplasia in the patient.

关 键 词：LHCGR基因 Leydig细胞发育不全 男性假两性畸形 基因检测 

分 类 号：R725.9[医药卫生—儿科]