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

Research output: Contribution to journalArticle

1 Citation (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 languageEnglish
Article number17003
JournalHuman Genome Variation
Volume4
DOIs
Publication statusPublished - 2017 Mar 2

Fingerprint

Bone
Genes
Pubic Bone
Genetic Databases
Mutation
Missense Mutation
Osteogenesis
Congenita Spondyloepiphyseal dysplasia

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Molecular Biology

Cite this

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.

In: Human Genome Variation, Vol. 4, 17003, 02.03.2017.

Research output: Contribution to journalArticle

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. In: Human Genome Variation. 2017 ; Vol. 4.
@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",
year = "2017",
month = "3",
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

VL - 4

JO - Human Genome Variation

JF - Human Genome Variation

SN - 2054-345X

M1 - 17003

ER -