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A novel variant of FGFR3 causes proportionate short stature

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F15%3A00083441" target="_blank" >RIV/00216224:14110/15:00083441 - isvavai.cz</a>

  • Result on the web

    <a href="http://dx.doi.org/10.1530/EJE-14-0945" target="_blank" >http://dx.doi.org/10.1530/EJE-14-0945</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1530/EJE-14-0945" target="_blank" >10.1530/EJE-14-0945</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    A novel variant of FGFR3 causes proportionate short stature

  • Original language description

    Objective: Mutations of the fibroblast growth factor receptor 3 (FGFR3) cause various forms of short stature, of which the least severe phenotype is hypochondroplasia, mainly characterized by disproportionate short stature. Testing for an FGFR3 mutationis currently not part of routine diagnostic testing in children with short stature without disproportion. Design: A three-generation family A with dominantly transmitted proportionate short stature was studied by whole-exome sequencing to identify the causal gene mutation. Functional studies and protein modeling studies were performed to confirm the pathogenicity of the mutation found in FGFR3. We performed Sanger sequencing in a second family B with dominant proportionate short stature and identified arare variant in FGFR3.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FB - Endocrinology, diabetology, metabolism, nutrition

  • OECD FORD branch

Result continuities

  • Project

    Result was created during the realization of more than one project. More information in the Projects tab.

  • Continuities

    P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2015

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    European Journal od Endocrinology

  • ISSN

    0804-4643

  • e-ISSN

  • Volume of the periodical

    172

  • Issue of the periodical within the volume

    6

  • Country of publishing house

    GB - UNITED KINGDOM

  • Number of pages

    8

  • Pages from-to

    763-770

  • UT code for WoS article

    000357212600020

  • EID of the result in the Scopus database