Heterozygous C-propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant

Masaki Takagi, Naoaki Hori, Yasutsugu Chinen, Kenji Kurosawa, Yukichi Tanaka, Kikuko Oku, Hitomi Sakata, Ryuji Fukuzawa, Gen Nishimura, Jürgen Spranger, Tomonobu Hasegawa

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Osteogenesis imperfecta type IIC (OI IIC) is a rare variant of lethal OI that has been considered to be an autosomal recessive trait. Twisted, slender long bones with dense metaphyseal margins and normal vertebral bodies in OI IIC contrast with crumpled, thick long bones and multiple vertebral compression fractures in OI IIA. Here, we report on two sporadic patients with classical OI IIC and a pair of siblings, with features of OI IIC but less distortion of the tubular bones (OI dense bone variant). One case with OI IIC and the sibs had novel heterozygous mutations in the C-propeptide region of COL1A1, while the second patient with clear-cut OI IIC had no mutation in this region. Histological examination in the two sporadic cases showed a network of broad, interconnected cartilaginous trabeculae with thin osseous seams in the metaphyses. These changes differed from the narrow and short metaphyseal trabeculae found in other lethal or severe cases of OI. Our experience sheds light on the genetics and etiology of OI IIC and on its phenotypic spectrum.

Original languageEnglish
Pages (from-to)2269-2273
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number9
DOIs
Publication statusPublished - 2011 Sep

Fingerprint

Osteogenesis Imperfecta
Bone and Bones
Mutation
Compression Fractures
Siblings

Keywords

  • C-propeptide
  • COL1A1
  • Dense bone
  • Osteogenesis imperfecta
  • Type IIC

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Heterozygous C-propeptide mutations in COL1A1 : Osteogenesis imperfecta type IIC and dense bone variant. / Takagi, Masaki; Hori, Naoaki; Chinen, Yasutsugu; Kurosawa, Kenji; Tanaka, Yukichi; Oku, Kikuko; Sakata, Hitomi; Fukuzawa, Ryuji; Nishimura, Gen; Spranger, Jürgen; Hasegawa, Tomonobu.

In: American Journal of Medical Genetics, Part A, Vol. 155, No. 9, 09.2011, p. 2269-2273.

Research output: Contribution to journalArticle

Takagi, M, Hori, N, Chinen, Y, Kurosawa, K, Tanaka, Y, Oku, K, Sakata, H, Fukuzawa, R, Nishimura, G, Spranger, J & Hasegawa, T 2011, 'Heterozygous C-propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant', American Journal of Medical Genetics, Part A, vol. 155, no. 9, pp. 2269-2273. https://doi.org/10.1002/ajmg.a.34152
Takagi, Masaki ; Hori, Naoaki ; Chinen, Yasutsugu ; Kurosawa, Kenji ; Tanaka, Yukichi ; Oku, Kikuko ; Sakata, Hitomi ; Fukuzawa, Ryuji ; Nishimura, Gen ; Spranger, Jürgen ; Hasegawa, Tomonobu. / Heterozygous C-propeptide mutations in COL1A1 : Osteogenesis imperfecta type IIC and dense bone variant. In: American Journal of Medical Genetics, Part A. 2011 ; Vol. 155, No. 9. pp. 2269-2273.
@article{805a87c728e04a5ebad14c8e69174b55,
title = "Heterozygous C-propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant",
abstract = "Osteogenesis imperfecta type IIC (OI IIC) is a rare variant of lethal OI that has been considered to be an autosomal recessive trait. Twisted, slender long bones with dense metaphyseal margins and normal vertebral bodies in OI IIC contrast with crumpled, thick long bones and multiple vertebral compression fractures in OI IIA. Here, we report on two sporadic patients with classical OI IIC and a pair of siblings, with features of OI IIC but less distortion of the tubular bones (OI dense bone variant). One case with OI IIC and the sibs had novel heterozygous mutations in the C-propeptide region of COL1A1, while the second patient with clear-cut OI IIC had no mutation in this region. Histological examination in the two sporadic cases showed a network of broad, interconnected cartilaginous trabeculae with thin osseous seams in the metaphyses. These changes differed from the narrow and short metaphyseal trabeculae found in other lethal or severe cases of OI. Our experience sheds light on the genetics and etiology of OI IIC and on its phenotypic spectrum.",
keywords = "C-propeptide, COL1A1, Dense bone, Osteogenesis imperfecta, Type IIC",
author = "Masaki Takagi and Naoaki Hori and Yasutsugu Chinen and Kenji Kurosawa and Yukichi Tanaka and Kikuko Oku and Hitomi Sakata and Ryuji Fukuzawa and Gen Nishimura and J{\"u}rgen Spranger and Tomonobu Hasegawa",
year = "2011",
month = "9",
doi = "10.1002/ajmg.a.34152",
language = "English",
volume = "155",
pages = "2269--2273",
journal = "American Journal of Medical Genetics",
issn = "1552-4868",
publisher = "Wiley-Liss Inc.",
number = "9",

}

TY - JOUR

T1 - Heterozygous C-propeptide mutations in COL1A1

T2 - Osteogenesis imperfecta type IIC and dense bone variant

AU - Takagi, Masaki

AU - Hori, Naoaki

AU - Chinen, Yasutsugu

AU - Kurosawa, Kenji

AU - Tanaka, Yukichi

AU - Oku, Kikuko

AU - Sakata, Hitomi

AU - Fukuzawa, Ryuji

AU - Nishimura, Gen

AU - Spranger, Jürgen

AU - Hasegawa, Tomonobu

PY - 2011/9

Y1 - 2011/9

N2 - Osteogenesis imperfecta type IIC (OI IIC) is a rare variant of lethal OI that has been considered to be an autosomal recessive trait. Twisted, slender long bones with dense metaphyseal margins and normal vertebral bodies in OI IIC contrast with crumpled, thick long bones and multiple vertebral compression fractures in OI IIA. Here, we report on two sporadic patients with classical OI IIC and a pair of siblings, with features of OI IIC but less distortion of the tubular bones (OI dense bone variant). One case with OI IIC and the sibs had novel heterozygous mutations in the C-propeptide region of COL1A1, while the second patient with clear-cut OI IIC had no mutation in this region. Histological examination in the two sporadic cases showed a network of broad, interconnected cartilaginous trabeculae with thin osseous seams in the metaphyses. These changes differed from the narrow and short metaphyseal trabeculae found in other lethal or severe cases of OI. Our experience sheds light on the genetics and etiology of OI IIC and on its phenotypic spectrum.

AB - Osteogenesis imperfecta type IIC (OI IIC) is a rare variant of lethal OI that has been considered to be an autosomal recessive trait. Twisted, slender long bones with dense metaphyseal margins and normal vertebral bodies in OI IIC contrast with crumpled, thick long bones and multiple vertebral compression fractures in OI IIA. Here, we report on two sporadic patients with classical OI IIC and a pair of siblings, with features of OI IIC but less distortion of the tubular bones (OI dense bone variant). One case with OI IIC and the sibs had novel heterozygous mutations in the C-propeptide region of COL1A1, while the second patient with clear-cut OI IIC had no mutation in this region. Histological examination in the two sporadic cases showed a network of broad, interconnected cartilaginous trabeculae with thin osseous seams in the metaphyses. These changes differed from the narrow and short metaphyseal trabeculae found in other lethal or severe cases of OI. Our experience sheds light on the genetics and etiology of OI IIC and on its phenotypic spectrum.

KW - C-propeptide

KW - COL1A1

KW - Dense bone

KW - Osteogenesis imperfecta

KW - Type IIC

UR - http://www.scopus.com/inward/record.url?scp=81155159640&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=81155159640&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.34152

DO - 10.1002/ajmg.a.34152

M3 - Article

C2 - 21834035

AN - SCOPUS:81155159640

VL - 155

SP - 2269

EP - 2273

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

SN - 1552-4868

IS - 9

ER -