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Ena-DATASET-CHUV-26-07-2017-14:49:34:899-912 - samples

ABSTRACT: These are the vcf files of exome sequencing of the two probands who were found to harbor mutations in KLB. Sample: EGAN00001564799 is the proband 1; Sample: EGAN00001564800 is the proband 11 in the KLB paper. Exome capture was performed using the SureSelect All Exon capture (Agilent Technologies, Santa Clara, CA USA) and sequenced on the HiSeq2500 (Illumina, San Diego CA USA).

PROVIDER: EGAD00001003463 | 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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