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KLB mutations in congenital hypogonadotropic hypogonadism

ABSTRACT: To test if patients with congenital hypogonadotropic hypogonadism harbor mutations in FGF21 and KLB (encoding the co-receptor of FGF21)

PROVIDER: EGAS00001002568 | EGA |

REPOSITORIES: EGA

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KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.

Xu Cheng C Messina Andrea A Somm Emmanuel E Miraoui Hichem H Kinnunen Tarja T Acierno James J Niederländer Nicolas J NJ Bouilly Justine J Dwyer Andrew A AA Sidis Yisrael Y Cassatella Daniele D Sykiotis Gerasimos P GP Quinton Richard R De Geyter Christian C Dirlewanger Mirjam M Schwitzgebel Valérie V Cole Trevor R TR Toogood Andrew A AA Kirk Jeremy Mw JM Plummer Lacey L Albrecht Urs U Crowley William F WF Mohammadi Moosa M Tena-Sempere Manuel M Prevot Vincent V Pitteloud Nelly N

EMBO molecular medicine 20171001 10

Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic form of isolated gonadotropin-releasing hormone (GnRH) deficiency caused by mutations in > 30 genes. Fibroblast growth factor receptor 1 (FGFR1) is the most frequently mutated gene in CHH and is implicated in GnRH neuron development and maintenance. We note that a CHH FGFR1 mutation (p.L342S) decreases signaling of the metabolic regulator FGF21 by impairing the association of FGFR1 with β-Klotho (KLB), the obligate co ...[more]

PMID: 28754744

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