A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities.
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ABSTRACT:
SUBMITTER: Seto T
PROVIDER: S-EPMC5352948 | biostudies-other | 2017
REPOSITORIES: biostudies-other
Publications
A novel <i>COL1A1</i> mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities.
Seto Toshiyuki T Yamamoto Toshiyuki T Shimojima Keiko K Shintaku Haruo H
Human genome variation 20170316
Osteogenesis imperfecta (OI) is a heterogeneous disorder that is characterized by bone fragility and systemic complications, and is mainly caused by gene mutations in <i>COL1A1</i> or <i>COL1A2</i>. A novel <i>COL1A1</i> 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. ...[more]
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