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

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...

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Autores principales: Takahashi, Ikuko, Kondo, Daiki, Oyama, Chikako, Yano, Tamami, Tamura, Hiroaki, Noguchi, Atsuko, Takahashi, Tsutomu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933720/
https://www.ncbi.nlm.nih.gov/pubmed/29736252
http://dx.doi.org/10.1038/s41439-018-0001-2
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author Takahashi, Ikuko
Kondo, Daiki
Oyama, Chikako
Yano, Tamami
Tamura, Hiroaki
Noguchi, Atsuko
Takahashi, Tsutomu
author_facet Takahashi, Ikuko
Kondo, Daiki
Oyama, Chikako
Yano, Tamami
Tamura, Hiroaki
Noguchi, Atsuko
Takahashi, Tsutomu
author_sort Takahashi, Ikuko
collection PubMed
description 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.
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spelling pubmed-59337202018-05-07 A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia Takahashi, Ikuko Kondo, Daiki Oyama, Chikako Yano, Tamami Tamura, Hiroaki Noguchi, Atsuko Takahashi, Tsutomu Hum Genome Var Data Report 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. Nature Publishing Group UK 2018-04-12 /pmc/articles/PMC5933720/ /pubmed/29736252 http://dx.doi.org/10.1038/s41439-018-0001-2 Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, and provide a link to the Creative Commons license. You do not have permission under this license to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, http://creativecommons.org/licenses/by-nc-nd/4.0/.
spellingShingle Data Report
Takahashi, Ikuko
Kondo, Daiki
Oyama, Chikako
Yano, Tamami
Tamura, Hiroaki
Noguchi, Atsuko
Takahashi, Tsutomu
A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia
title A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia
title_full A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia
title_fullStr A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia
title_full_unstemmed A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia
title_short A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia
title_sort novel s269c mutation in fibroblast growth factor receptor 3 in a japanese child with hypochondroplasia
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933720/
https://www.ncbi.nlm.nih.gov/pubmed/29736252
http://dx.doi.org/10.1038/s41439-018-0001-2
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