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

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dc.contributor.authorCho, SY-
dc.contributor.authorAsharani, PV-
dc.contributor.authorKim, OH-
dc.contributor.authorIida, A-
dc.contributor.authorMiyake, N-
dc.contributor.authorMatsumoto, N-
dc.contributor.authorNishimura, G-
dc.contributor.authorKi, CS-
dc.contributor.authorHong, G-
dc.contributor.authorKim, SJ-
dc.contributor.authorSohn, YB-
dc.contributor.authorPark, SW-
dc.contributor.authorLee, J-
dc.contributor.authorKwun, Y-
dc.contributor.authorCarney, TJ-
dc.contributor.authorHuh, R-
dc.contributor.authorIkegawa, S-
dc.contributor.authorJin, DK-
dc.date.accessioned2017-04-25T06:02:51Z-
dc.date.available2017-04-25T06:02:51Z-
dc.date.issued2015-
dc.identifier.issn1059-7794-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/13914-
dc.description.abstractOsteogenesis 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.-
dc.language.isoen-
dc.subject.MESHAmino Acid Substitution-
dc.subject.MESHAnimals-
dc.subject.MESHBone Morphogenetic Protein 1-
dc.subject.MESHFemale-
dc.subject.MESHGenetic Association Studies-
dc.subject.MESHHeterozygote-
dc.subject.MESHHumans-
dc.subject.MESHInfant-
dc.subject.MESHOsteogenesis Imperfecta-
dc.subject.MESHPolymorphism, Single Nucleotide-
dc.subject.MESHZebrafish-
dc.titleIdentification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.-
dc.typeArticle-
dc.identifier.pmid25402547-
dc.contributor.affiliatedAuthor손, 영배-
dc.type.localJournal Papers-
dc.identifier.doi10.1002/humu.22731-
dc.citation.titleHuman mutation-
dc.citation.volume36-
dc.citation.number2-
dc.citation.date2015-
dc.citation.startPage191-
dc.citation.endPage195-
dc.identifier.bibliographicCitationHuman mutation, 36(2). : 191-195, 2015-
dc.identifier.eissn1098-1004-
dc.relation.journalidJ010597794-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
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