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Article

A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.

Human molecular genetics - 5 May 2023

Wang Xinying, Chen Danna, Zhao Yaguang, Men Meichao, Chen Zhiheng, Jiang Fang, Zheng Ruizhi, Stamou Maria I, Plummer Lacey, Balasubramanian Ravikumar, Li Jia-Da

Abstract excerpt

Isolated hypogonadotropic hypogonadism (IHH) is a rare disease with hypogonadism and infertility caused by the defects in embryonic migration of hypothalamic gonadotropin-releasing hormone (GnRH) neurons, hypothalamic GnRH secretion or GnRH signal transduction. PROKR2 gene, encoding a G-protein coupled receptor PROKR2, is one of the most frequently mutated genes identified in IHH patients. However, the functional...

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Identifiers

PMID: 36694982
DOI: 10.1093/hmg/ddad014
PMCID: PMC10422949

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