Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta
- Authors
- Cho, Sung Yoon; Asharani, P. V.; Kim, Ok-Hwa; Iida, Aritoshi; Miyake, Noriko; Matsumoto, Naomichi; Nishimura, Gen; Ki, Chang-Seok; Hong, Geehay; Kim, Su Jin; Sohn, Young Bae; Park, Sung Won; Lee, Jieun; Kwun, Younghee; Carney, Thomas J.; Huh, Rimm; Ikegawa, Shiro; Jin, Dong-Kyu
- Issue Date
- Feb-2015
- Publisher
- WILEY
- Keywords
- osteogenesis imperfecta; BMP1; zebrafish; whole-exome sequencing; mutation
- Citation
- HUMAN MUTATION, v.36, no.2, pp.191 - 195
- Journal Title
- HUMAN MUTATION
- Volume
- 36
- Number
- 2
- Start Page
- 191
- End Page
- 195
- URI
- https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/10831
- DOI
- 10.1002/humu.22731
- ISSN
- 1059-7794
- Abstract
- Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders that are characterized by susceptibility to bone fractures, and range in severity from a subtle increase in fracture frequency to death in the perinatal period. Most patients have defects in type I collagen biosynthesis with autosomal-dominant inheritance, but many autosomal-recessive genes have been reported. We applied whole-exome sequencing to identify mutations in a Korean OI patient who had an umbilical hernia, frequent fractures, a markedly short stature, delayed motor development, scoliosis, and dislocation of the radial head, with a bowed radius and ulna. We identified two novel variants in the BMP1 gene: c.808A>G and c.1297G>T. The former variant caused a missense change p.(Met270Val) and the latter variant caused the skipping of exon 10. The hypofunctional nature of the two variants was demonstrated in a zebrafish assay.
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