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

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2020

Xia Junke, Li Luping, Duan Fuhua, Meng Jingjing, Yan Shuping, Li Shenglei, Ren Huayan, Kong Xiangdong

Abstract excerpt

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...

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Identifiers

PMID: 32761586
DOI: 10.3760/cma.j.issn.1003-9406.2020.08.004

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