A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities

Osteogenesis imperfecta (OI) is a heterogeneous disorder that is characterized by bone fragility and systemic complications, and is mainly caused by gene mutations in COL1A1 or COL1A2. A novel COL1A1 splicing mutation, c.750+2T>A, was identified in a Japanese OI family. Only the proband in this f...

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Autores principales: Seto, Toshiyuki, Yamamoto, Toshiyuki, Shimojima, Keiko, Shintaku, Haruo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352948/
https://www.ncbi.nlm.nih.gov/pubmed/28326186
http://dx.doi.org/10.1038/hgv.2017.7
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author Seto, Toshiyuki
Yamamoto, Toshiyuki
Shimojima, Keiko
Shintaku, Haruo
author_facet Seto, Toshiyuki
Yamamoto, Toshiyuki
Shimojima, Keiko
Shintaku, Haruo
author_sort Seto, Toshiyuki
collection PubMed
description Osteogenesis imperfecta (OI) is a heterogeneous disorder that is characterized by bone fragility and systemic complications, and is mainly caused by gene mutations in COL1A1 or COL1A2. A novel COL1A1 splicing mutation, c.750+2T>A, was identified in a Japanese OI family. Only the proband in this family showed various complications, such as heart valve diseases and severe scoliosis. The clinical heterogeneity in the family is discussed in this study.
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spelling pubmed-53529482017-03-21 A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities Seto, Toshiyuki Yamamoto, Toshiyuki Shimojima, Keiko Shintaku, Haruo Hum Genome Var Data Report Osteogenesis imperfecta (OI) is a heterogeneous disorder that is characterized by bone fragility and systemic complications, and is mainly caused by gene mutations in COL1A1 or COL1A2. A novel COL1A1 splicing mutation, c.750+2T>A, was identified in a Japanese OI family. Only the proband in this family showed various complications, such as heart valve diseases and severe scoliosis. The clinical heterogeneity in the family is discussed in this study. Nature Publishing Group 2017-03-16 /pmc/articles/PMC5352948/ /pubmed/28326186 http://dx.doi.org/10.1038/hgv.2017.7 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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/4.0/
spellingShingle Data Report
Seto, Toshiyuki
Yamamoto, Toshiyuki
Shimojima, Keiko
Shintaku, Haruo
A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities
title A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities
title_full A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities
title_fullStr A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities
title_full_unstemmed A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities
title_short A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities
title_sort novel col1a1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5352948/
https://www.ncbi.nlm.nih.gov/pubmed/28326186
http://dx.doi.org/10.1038/hgv.2017.7
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