Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene.
10.3760/cma.j.issn.1003-9406.2020.08.004
- VernacularTitle:LHCGR新变异致Leydig细胞发育不全患儿的基因诊断
- Author:
Junke XIA
1
;
Luping LI
;
Fuhua DUAN
;
Jingjing MENG
;
Shuping YAN
;
Shenglei LI
;
Huayan REN
;
Xiangdong KONG
Author Information
1. Prenatal and Genetic Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450002, China. kongxd@263.net.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(8):819-822
- CountryChina
- Language:Chinese
-
Abstract:
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.
