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

Toshiyuki Seto; Toshiyuki Yamamoto; Keiko Shimojima; Haruo Shintaku

doi:10.1038/hgv.2017.7

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

Hum Genome Var. 2017 Mar 16:4:17007. doi: 10.1038/hgv.2017.7. eCollection 2017.

Authors

Toshiyuki Seto¹, Toshiyuki Yamamoto², Keiko Shimojima², Haruo Shintaku¹

Affiliations

¹ Department of Pediatrics, Graduate School of Medicine, Osaka City University , Osaka, Japan.
² Institute of Medical Genetics, Tokyo Women's Medical University , Tokyo, Japan.

Abstract

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.