A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia congenita (SEDC, OMIM #183900) is one of the type II collagenopathies caused by a heterozygous mutation in the COL2A1 gene. Although typical SEDC shows delay of pubic bone ossification on radiographs, atypical SEDC exists without this finding. We identified an atypical S...

Descripción completa

Detalles Bibliográficos
Autores principales: Kusano, Chieko, Takagi, Masaki, Hori, Naoaki, Murotsuki, Jun, Nishimura, Gen, Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5332300/
https://www.ncbi.nlm.nih.gov/pubmed/28265456
http://dx.doi.org/10.1038/hgv.2017.3
_version_ 1782511516869722112
author Kusano, Chieko
Takagi, Masaki
Hori, Naoaki
Murotsuki, Jun
Nishimura, Gen
Hasegawa, Tomonobu
author_facet Kusano, Chieko
Takagi, Masaki
Hori, Naoaki
Murotsuki, Jun
Nishimura, Gen
Hasegawa, Tomonobu
author_sort Kusano, Chieko
collection PubMed
description Spondyloepiphyseal dysplasia congenita (SEDC, OMIM #183900) is one of the type II collagenopathies caused by a heterozygous mutation in the COL2A1 gene. Although typical SEDC shows delay of pubic bone ossification on radiographs, atypical SEDC exists without this finding. We identified an atypical SEDC patient with a novel missense mutation in the C-propeptide region of COL2A1. This case suggests that a COL2A1 C-propeptide mutation can cause atypical SEDC.
format Online
Article
Text
id pubmed-5332300
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher Nature Publishing Group
record_format MEDLINE/PubMed
spelling pubmed-53323002017-03-06 A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita Kusano, Chieko Takagi, Masaki Hori, Naoaki Murotsuki, Jun Nishimura, Gen Hasegawa, Tomonobu Hum Genome Var Data Report Spondyloepiphyseal dysplasia congenita (SEDC, OMIM #183900) is one of the type II collagenopathies caused by a heterozygous mutation in the COL2A1 gene. Although typical SEDC shows delay of pubic bone ossification on radiographs, atypical SEDC exists without this finding. We identified an atypical SEDC patient with a novel missense mutation in the C-propeptide region of COL2A1. This case suggests that a COL2A1 C-propeptide mutation can cause atypical SEDC. Nature Publishing Group 2017-03-02 /pmc/articles/PMC5332300/ /pubmed/28265456 http://dx.doi.org/10.1038/hgv.2017.3 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
spellingShingle Data Report
Kusano, Chieko
Takagi, Masaki
Hori, Naoaki
Murotsuki, Jun
Nishimura, Gen
Hasegawa, Tomonobu
A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita
title A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita
title_full A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita
title_fullStr A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita
title_full_unstemmed A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita
title_short A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita
title_sort novel mutation in the c-propeptide of col2a1 causes atypical spondyloepiphyseal dysplasia congenita
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5332300/
https://www.ncbi.nlm.nih.gov/pubmed/28265456
http://dx.doi.org/10.1038/hgv.2017.3
work_keys_str_mv AT kusanochieko anovelmutationinthecpropeptideofcol2a1causesatypicalspondyloepiphysealdysplasiacongenita
AT takagimasaki anovelmutationinthecpropeptideofcol2a1causesatypicalspondyloepiphysealdysplasiacongenita
AT horinaoaki anovelmutationinthecpropeptideofcol2a1causesatypicalspondyloepiphysealdysplasiacongenita
AT murotsukijun anovelmutationinthecpropeptideofcol2a1causesatypicalspondyloepiphysealdysplasiacongenita
AT nishimuragen anovelmutationinthecpropeptideofcol2a1causesatypicalspondyloepiphysealdysplasiacongenita
AT hasegawatomonobu anovelmutationinthecpropeptideofcol2a1causesatypicalspondyloepiphysealdysplasiacongenita
AT kusanochieko novelmutationinthecpropeptideofcol2a1causesatypicalspondyloepiphysealdysplasiacongenita
AT takagimasaki novelmutationinthecpropeptideofcol2a1causesatypicalspondyloepiphysealdysplasiacongenita
AT horinaoaki novelmutationinthecpropeptideofcol2a1causesatypicalspondyloepiphysealdysplasiacongenita
AT murotsukijun novelmutationinthecpropeptideofcol2a1causesatypicalspondyloepiphysealdysplasiacongenita
AT nishimuragen novelmutationinthecpropeptideofcol2a1causesatypicalspondyloepiphysealdysplasiacongenita
AT hasegawatomonobu novelmutationinthecpropeptideofcol2a1causesatypicalspondyloepiphysealdysplasiacongenita

Ejemplares similares