A novelCOL1A1mutation 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 inCOL1A1orCOL1A2. A novelCOL1A1splicing 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.
Department of Pediatrics, Graduate School of Medicine, Osaka City University , Osaka, Japan.
Toshiyuki
T
Seto
Institute of Medical Genetics, Tokyo Women's Medical University , Tokyo, Japan.
Toshiyuki
T
Yamamoto
Institute of Medical Genetics, Tokyo Women's Medical University , Tokyo, Japan.
Keiko
K
Shimojima
Department of Pediatrics, Graduate School of Medicine, Osaka City University , Osaka, Japan.
Haruo
H
Shintaku