[LHCGR基因两个新变异导致的莱迪希细胞发育不全患者的基因诊断]
[Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene].
作者信息
Xia Junke, Li Luping, Duan Fuhua, Meng Jingjing, Yan Shuping, Li Shenglei, Ren Huayan, Kong Xiangdong
机构信息
Prenatal and Genetic Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450002, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Aug 10;37(8):819-822. doi: 10.3760/cma.j.issn.1003-9406.2020.08.004.
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.
目的
探讨一名莱迪希细胞发育不全患者的遗传基础。
方法
采用全外显子组测序检测该患者的基因变异。通过对家庭成员进行PCR和桑格测序验证可疑变异。
结果
发现该患者携带促黄体生成素受体基因（LHCGR）的两个新变异，即c.265A>T（p.Ile189Leu）和c.422T>C（p.Val141Ala），分别遗传自其父亲和母亲。产前诊断发现胎儿是c.265A>T（p.Ile189Leu）变异的杂合携带者。
结论
LHCGR基因的c.265A>T（p.Ile189Leu）和c.422T>C（p.Val141Ala）复合杂合变异可能是该患者莱迪希细胞发育不全的原因。
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