Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1

Osteogenesis imperfecta IIC (OI IIC), which is a rare variant of lethal OI that has been considered to be an autosomal recessive trait, is characterized by twisted, slender long bones with dense metaphyseal margins. Here, we report a typical case of OI IIC caused by a novel heterozygous mutation in...

Descripción completa

Detalles Bibliográficos
Autores principales: Takagi, Masaki, Matsushita, Mitsuru, Nishimura, Gen, Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785516/
https://www.ncbi.nlm.nih.gov/pubmed/27081514
http://dx.doi.org/10.1038/hgv.2014.25
_version_ 1782420412465938432
author Takagi, Masaki
Matsushita, Mitsuru
Nishimura, Gen
Hasegawa, Tomonobu
author_facet Takagi, Masaki
Matsushita, Mitsuru
Nishimura, Gen
Hasegawa, Tomonobu
author_sort Takagi, Masaki
collection PubMed
description Osteogenesis imperfecta IIC (OI IIC), which is a rare variant of lethal OI that has been considered to be an autosomal recessive trait, is characterized by twisted, slender long bones with dense metaphyseal margins. Here, we report a typical case of OI IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1. OI IIC seems to be caused by a dominant mutation of COL1A1.
format Online
Article
Text
id pubmed-4785516
institution National Center for Biotechnology Information
language English
publishDate 2014
publisher Nature Publishing Group
record_format MEDLINE/PubMed
spelling pubmed-47855162016-04-14 Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1 Takagi, Masaki Matsushita, Mitsuru Nishimura, Gen Hasegawa, Tomonobu Hum Genome Var Data Report Osteogenesis imperfecta IIC (OI IIC), which is a rare variant of lethal OI that has been considered to be an autosomal recessive trait, is characterized by twisted, slender long bones with dense metaphyseal margins. Here, we report a typical case of OI IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1. OI IIC seems to be caused by a dominant mutation of COL1A1. Nature Publishing Group 2014-11-20 /pmc/articles/PMC4785516/ /pubmed/27081514 http://dx.doi.org/10.1038/hgv.2014.25 Text en Copyright © 2014 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported 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-nc-sa/3.0/
spellingShingle Data Report
Takagi, Masaki
Matsushita, Mitsuru
Nishimura, Gen
Hasegawa, Tomonobu
Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1
title Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1
title_full Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1
title_fullStr Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1
title_full_unstemmed Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1
title_short Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1
title_sort osteogenesis imperfecta iic caused by a novel heterozygous mutation in the c-propeptide region of col1a1
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785516/
https://www.ncbi.nlm.nih.gov/pubmed/27081514
http://dx.doi.org/10.1038/hgv.2014.25
work_keys_str_mv AT takagimasaki osteogenesisimperfectaiiccausedbyanovelheterozygousmutationinthecpropeptideregionofcol1a1
AT matsushitamitsuru osteogenesisimperfectaiiccausedbyanovelheterozygousmutationinthecpropeptideregionofcol1a1
AT nishimuragen osteogenesisimperfectaiiccausedbyanovelheterozygousmutationinthecpropeptideregionofcol1a1
AT hasegawatomonobu osteogenesisimperfectaiiccausedbyanovelheterozygousmutationinthecpropeptideregionofcol1a1

Ejemplares similares