WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

doi:10.1016/j.ajhg.2010.08.018

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Article

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

American journal of human genetics - 8 Oct 2010

Kim Hyung-Goo, Ahn Jang-Won, Kurth Ingo, Ullmann Reinhard, Kim Hyun-Taek, Kulharya Anita, Ha Kyung-Soo, Itokawa Yasuhide, Meliciani Irene, Wenzel Wolfgang, Lee Deresa, Rosenberger Georg, Ozata Metin, Bick David P, Sherins Richard J, Nagase Takahiro, Tekin Mustafa, Kim Soo-Hyun, Kim Cheol-Hee, Ropers Hans-Hilger, Gusella James F, Kalscheuer Vera, Choi Cheol Yong, Layman Lawrence C

Abstract excerpt

By defining the chromosomal breakpoint of a balanced t(10;12) translocation from a subject with Kallmann syndrome and scanning genes in its vicinity in unrelated hypogonadal subjects, we have identified WDR11 as a gene involved in human puberty. We found six patients with a total of five different heterozygous WDR11 missense mutations, including three alterations (A435T, R448Q, and H690Q) in WD domains important...

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Identifiers

PMID: 20887964
DOI: 10.1016/j.ajhg.2010.08.018
PMCID: PMC2948809

Genes

EMX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.PMID 20887964Read ↗

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