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

Chieko Kusano; Masaki Takagi; Naoaki Hori; Jun Murotsuki; Gen Nishimura; Tomonobu Hasegawa

doi:10.1038/hgv.2017.3

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

Chieko Kusano, Masaki Takagi, Naoaki Hori, Jun Murotsuki, Gen Nishimura, Tomonobu Hasegawa

School of Medicine

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

Abstract

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.

Original language	English
Article number	17003
Journal	Human Genome Variation
Volume	4
DOIs	https://doi.org/10.1038/hgv.2017.3
Publication status	Published - 2017 Mar 2

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Genetics

Access to Document

10.1038/hgv.2017.3

Cite this

@article{193760addd614feeb13568c7f77b928b,

title = "A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita",

abstract = "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.",

author = "Chieko Kusano and Masaki Takagi and Naoaki Hori and Jun Murotsuki and Gen Nishimura and Tomonobu Hasegawa",

note = "Publisher Copyright: {\textcopyright} The Author(s) 2017.",

year = "2017",

month = mar,

day = "2",

doi = "10.1038/hgv.2017.3",

language = "English",

volume = "4",

journal = "Human Genome Variation",

issn = "2054-345X",

publisher = "Nature Publishing Group",

}

TY - JOUR

T1 - A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita

AU - Kusano, Chieko

AU - Takagi, Masaki

AU - Hori, Naoaki

AU - Murotsuki, Jun

AU - Nishimura, Gen

AU - Hasegawa, Tomonobu

PY - 2017/3/2

Y1 - 2017/3/2

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85061171259&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85061171259&partnerID=8YFLogxK

U2 - 10.1038/hgv.2017.3

DO - 10.1038/hgv.2017.3

M3 - Article

AN - SCOPUS:85061171259

SN - 2054-345X

VL - 4

JO - Human Genome Variation

JF - Human Genome Variation

M1 - 17003

ER -

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

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this