De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.

doi:10.1016/j.gim.2025.101623

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Article

De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2026

Stamou Maria, Tompkins Miranda, Bow Hannah, Kearney Jessica, Akram Maleeha, Brand Harrison, Zhao Xuefang, Zaheri Shadi, Georgopoulos Neoklis A, Chorin Odelia, Khavkin Yulia, Kedar Tal, Lippincott Margaret F, Plummer Lacey, Talkowski Michael, Shen Yiping, Wu Doris K, Balasubramanian Ravikumar, Wray Susan, Seminara Stephanie B

Abstract excerpt

PURPOSE: The genetic etiology of infertility remains unknown. To identify genes for human infertility, we applied a de novo variant analysis in 142 parent-proband trios with idiopathic hypogonadotropic hypogonadism (IHH), an infertility disorder caused by gonadotropin-releasing hormone (GnRH) deficiency. METHODS: Rare de novo copy-number and single-nucleotide variants (CNVs and SNVs) were called from exome...

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Identifiers

PMID: 41765865
DOI: 10.1016/j.gim.2025.101623
PMCID: PMC12950952

Genes

EMX2
IHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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