Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2

Masaki Takagi, Hiroyuki Shinohara, Satoshi Narumi, Gen Nishimura, Yukihiro Hasegawa, Tomonobu Hasegawa

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Most cases of osteogenesis imperfecta (OI) are caused by heterozygous mutations in COL1A1 or COL1A2, the genes encoding the two type I procollagen alpha chains, proα1 (I) and proα2 (I). We report on a unique case of severe OI, a long term survivor of lethal type II OI, rather than progressively deforming type III, due to double substitutions of glycine residues in COL1A2 (p.Gly208Glu and p.Gly235Asp), located on the same allele. To the best of our knowledge, this is the first example of a patient with double COL1A2 glycine substitution mutations on the same allele. We show for the first time that double COL1A2 glycine substitution mutations located near the amino-terminal triple helical region, which individually are likely to result in mild OI, cause severe OI in combination.

Original languageEnglish
Pages (from-to)1627-1631
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number7
DOIs
Publication statusPublished - 2015 Jul 1

Fingerprint

Osteogenesis Imperfecta
Glycine
Mutation
Alleles
Collagen Type I
Survivors
alpha 2(I) collagen
Genes

Keywords

  • Double mutation
  • Glycine
  • Osteogenesis imperfect

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2. / Takagi, Masaki; Shinohara, Hiroyuki; Narumi, Satoshi; Nishimura, Gen; Hasegawa, Yukihiro; Hasegawa, Tomonobu.

In: American Journal of Medical Genetics, Part A, Vol. 167, No. 7, 01.07.2015, p. 1627-1631.

Research output: Contribution to journalArticle

Takagi, Masaki ; Shinohara, Hiroyuki ; Narumi, Satoshi ; Nishimura, Gen ; Hasegawa, Yukihiro ; Hasegawa, Tomonobu. / Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2. In: American Journal of Medical Genetics, Part A. 2015 ; Vol. 167, No. 7. pp. 1627-1631.
@article{4df9906b17b3418db0de6ce79584b698,
title = "Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2",
abstract = "Most cases of osteogenesis imperfecta (OI) are caused by heterozygous mutations in COL1A1 or COL1A2, the genes encoding the two type I procollagen alpha chains, proα1 (I) and proα2 (I). We report on a unique case of severe OI, a long term survivor of lethal type II OI, rather than progressively deforming type III, due to double substitutions of glycine residues in COL1A2 (p.Gly208Glu and p.Gly235Asp), located on the same allele. To the best of our knowledge, this is the first example of a patient with double COL1A2 glycine substitution mutations on the same allele. We show for the first time that double COL1A2 glycine substitution mutations located near the amino-terminal triple helical region, which individually are likely to result in mild OI, cause severe OI in combination.",
keywords = "Double mutation, Glycine, Osteogenesis imperfect",
author = "Masaki Takagi and Hiroyuki Shinohara and Satoshi Narumi and Gen Nishimura and Yukihiro Hasegawa and Tomonobu Hasegawa",
year = "2015",
month = "7",
day = "1",
doi = "10.1002/ajmg.a.37051",
language = "English",
volume = "167",
pages = "1627--1631",
journal = "American Journal of Medical Genetics",
issn = "1552-4868",
publisher = "Wiley-Liss Inc.",
number = "7",

}

TY - JOUR

T1 - Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2

AU - Takagi, Masaki

AU - Shinohara, Hiroyuki

AU - Narumi, Satoshi

AU - Nishimura, Gen

AU - Hasegawa, Yukihiro

AU - Hasegawa, Tomonobu

PY - 2015/7/1

Y1 - 2015/7/1

N2 - Most cases of osteogenesis imperfecta (OI) are caused by heterozygous mutations in COL1A1 or COL1A2, the genes encoding the two type I procollagen alpha chains, proα1 (I) and proα2 (I). We report on a unique case of severe OI, a long term survivor of lethal type II OI, rather than progressively deforming type III, due to double substitutions of glycine residues in COL1A2 (p.Gly208Glu and p.Gly235Asp), located on the same allele. To the best of our knowledge, this is the first example of a patient with double COL1A2 glycine substitution mutations on the same allele. We show for the first time that double COL1A2 glycine substitution mutations located near the amino-terminal triple helical region, which individually are likely to result in mild OI, cause severe OI in combination.

AB - Most cases of osteogenesis imperfecta (OI) are caused by heterozygous mutations in COL1A1 or COL1A2, the genes encoding the two type I procollagen alpha chains, proα1 (I) and proα2 (I). We report on a unique case of severe OI, a long term survivor of lethal type II OI, rather than progressively deforming type III, due to double substitutions of glycine residues in COL1A2 (p.Gly208Glu and p.Gly235Asp), located on the same allele. To the best of our knowledge, this is the first example of a patient with double COL1A2 glycine substitution mutations on the same allele. We show for the first time that double COL1A2 glycine substitution mutations located near the amino-terminal triple helical region, which individually are likely to result in mild OI, cause severe OI in combination.

KW - Double mutation

KW - Glycine

KW - Osteogenesis imperfect

UR - http://www.scopus.com/inward/record.url?scp=84931567766&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84931567766&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.37051

DO - 10.1002/ajmg.a.37051

M3 - Article

C2 - 25858481

AN - SCOPUS:84931567766

VL - 167

SP - 1627

EP - 1631

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

SN - 1552-4868

IS - 7

ER -