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Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.

Authors
Cho, SY | Asharani, PV | Kim, OH | Iida, A | Miyake, N | Matsumoto, N | Nishimura, G | Ki, CS | Hong, G | Kim, SJ | Sohn, YB  | Park, SW | Lee, J | Kwun, Y | Carney, TJ | Huh, R | Ikegawa, S | Jin, DK
Citation
Human mutation, 36(2). : 191-195, 2015
Journal Title
Human mutation
ISSN
1059-77941098-1004
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.
MeSH

DOI
10.1002/humu.22731
PMID
25402547
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
Ajou Authors
손, 영배
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