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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Detalles Bibliográficos
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
Descripción
Sumario: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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