SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

doi:10.1371/journal.pgen.1002896

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Article

SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

PLoS genetics - 1 Aug 2012

Hanchate Naresh Kumar, Giacobini Paolo, Lhuillier Pierre, Parkash Jyoti, Espy Cécile, Fouveaut Corinne, Leroy Chrystel, Baron Stéphanie, Campagne Céline, Vanacker Charlotte, Collier Francis, Cruaud Corinne, Meyer Vincent, García-Piñero Alfons, Dewailly Didier, Cortet-Rudelli Christine, Gersak Ksenija, Metz Chantal, Chabrier Gérard, Pugeat Michel, Young Jacques, Hardelin Jean-Pierre, Prevot Vincent, Dodé Catherine

Abstract excerpt

Kallmann syndrome (KS) associates congenital hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency and anosmia. The genetics of KS involves various modes of transmission, including oligogenic inheritance. Here, we report that Nrp1(sema/sema) mutant mice that lack a functional semaphorin-binding domain in neuropilin-1, an obligatory coreceptor of semaphorin-3A, have a KS-like phenotype....

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PMID: 22927827
DOI: 10.1371/journal.pgen.1002896
PMCID: PMC3426548

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