A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia.

Autor:	Takahashi I; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan., Kondo D; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan., Oyama C; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan., Yano T; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan., Tamura H; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan., Noguchi A; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan., Takahashi T; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
Jazyk:	angličtina
Zdroj:	Human genome variation [Hum Genome Var] 2018 Apr 12; Vol. 5, pp. 1. Date of Electronic Publication: 2018 Apr 12 (Print Publication: 2018).
DOI:	10.1038/s41439-018-0001-2
Abstrakt:	Functionally activating mutations in fibroblast growth factor receptor 3 (FGFR3) can cause four types of autosomal dominant skeletal dysplasia with short-limbed dwarfism that include the mildest phenotype, hypochondroplasia (HCH). A novel mutation (c.805A>T, p.S269C) was identified in a Japanese infant with HCH through direct sequencing of all FGFR3 exons and exon/intron boundaries. This mutation creates an additional cysteine residue in the extracellular region of FGFR3 that results in the functional activation of FGFR3. Competing Interests: The authors declare that they have no conflict of interest.
Databáze:	MEDLINE
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