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Article

CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration.

Endocrinology - 1 May 2016

Hutchins B Ian, Kotan L Damla, Taylor-Burds Carol, Ozkan Yusuf, Cheng Paul J, Gurbuz Fatih, Tiong Jean D R, Mengen Eda, Yuksel Bilgin, Topaloglu A Kemal, Wray Susan

Abstract excerpt

The first mutation in a gene associated with a neuronal migration disorder was identified in patients with Kallmann Syndrome, characterized by hypogonadotropic hypogonadism and anosmia. This pathophysiological association results from a defect in the development of the GnRH and the olfactory system. A recent genetic screening of Kallmann Syndrome patients revealed a novel mutation in CCDC141. Little is known...

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Identifiers

PMID: 27014940
DOI: 10.1210/en.2015-1846
PMCID: PMC4870868

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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