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FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region.

Human mutation - 1 May 2017

Ohtaka Kohnosuke, Fujisawa Yasuko, Takada Fumio, Hasegawa Yukihiro, Miyoshi Tatsuya, Hasegawa Tomonobu, Miyoshi Hideaki, Kameda Hiraku, Kurokawa-Seo Misuzu, Fukami Maki, Ogata Tsutomu

Abstract excerpt

Heterozygous loss-of-function mutations of FGFR1 (fibroblast growth factor receptor 1) cause various disorders including hypogonadotropic hypogonadism with split-hand/foot malformation (HH-SHFM). We examined FGFR1 in four Japanese patients with HH-SHFM (cases 1-4) and the mother of case 4 with HH only. Cases 1 and 2 had heterozygous loss-of-function mutations with no dominant negative effect (c.289G>A, p.[G97S];...

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Identifiers

PMID: 28087897
DOI: 10.1002/humu.23178

Genes

FGFR1

Variants

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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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