一个患有成骨不全症且伴有表型变异的家族中的一种新型突变。
A novel mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities.
作者信息
Seto Toshiyuki, Yamamoto Toshiyuki, Shimojima Keiko, Shintaku Haruo
机构信息
Department of Pediatrics, Graduate School of Medicine, Osaka City University , Osaka, Japan.
Institute of Medical Genetics, Tokyo Women's Medical University , Tokyo, Japan.
出版信息
Hum Genome Var. 2017 Mar 16;4:17007. doi: 10.1038/hgv.2017.7. eCollection 2017.
Osteogenesis imperfecta (OI) is a heterogeneous disorder that is characterized by bone fragility and systemic complications, and is mainly caused by gene mutations in or . A novel 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.
成骨不全症（OI）是一种异质性疾病，其特征为骨脆性和全身并发症，主要由 或 中的基因突变引起。在一个日本OI家系中鉴定出一种新的剪接突变，c.750+2T>A。该家系中只有先证者表现出各种并发症，如心脏瓣膜疾病和严重脊柱侧弯。本研究讨论了该家系中的临床异质性。
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