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Article

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

American journal of human genetics - 2 May 2013

Miraoui Hichem, Dwyer Andrew A, Sykiotis Gerasimos P, Plummer Lacey, Chung Wilson, Feng Bihua, Beenken Andrew, Clarke Jeff, Pers Tune H, Dworzynski Piotr, Keefe Kimberley, Niedziela Marek, Raivio Taneli, Crowley William F, Seminara Stephanie B, Quinton Richard, Hughes Virginia A, Kumanov Philip, Young Jacques, Yialamas Maria A, Hall Janet E, Van Vliet Guy, Chanoine Jean-Pierre, Rubenstein John, Mohammadi Moosa, Tsai Pei-San, Sidis Yisrael, Lage Kasper, Pitteloud Nelly

Abstract excerpt

Congenital hypogonadotropic hypogonadism (CHH) and its anosmia-associated form (Kallmann syndrome [KS]) are genetically heterogeneous. Among the >15 genes implicated in these conditions, mutations in FGF8 and FGFR1 account for ~12% of cases; notably, KAL1 and HS6ST1 are also involved in FGFR1 signaling and can be mutated in CHH. We therefore hypothesized that mutations in genes encoding a broader range of...

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Source

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Identifiers

PMID: 23643382
DOI: 10.1016/j.ajhg.2013.04.008
PMCID: PMC3644636

Genes

FGF17
FGFR1
DUSP6
FGF8
FLRT3
SPRY4
FGF18
SPRY2

Provenance

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

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