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Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

Authors
Kim, SJ; Bieganski, T; Sohn, YB; Kozlowski, K; Semënov, M; Okamoto, N; Kim, CH; Ko, AR; Ahn, GH; Choi, YL; Park, SW; Ki, CS; Kim, OH; Nishimura, G; Unger, S; Superti-Furga, A; Jin, DK
Citation
Human genetics, 129(5):497-502, 2011
Journal Title
Human genetics
ISSN
0340-67171432-1203
Abstract
Sclerosteosis and Van Buchem disease are related recessive sclerosing bone dysplasias caused by alterations in the SOST gene. We tested the hypothesis that craniodiaphyseal dysplasia (CDD) (MIM 122860), an extremely rare sclerosing bone dysplasia resulting facial distortion referred to as "leontiasis ossea", could also be caused by SOST mutations. We discovered mutations c.61G>A (Val21Met) and c.61G>T (Val21Leu) two children with CDD. As these mutations are located in the secretion signal of the SOST gene, we tested their effect on secretion by transfecting the mutant constructs into 293E cells. Intriguingly, these mutations greatly reduced the secretion of SOST. We conclude that CDD, the most severe form of sclerotic bone disease, is part of a spectrum of disease caused by mutations in SOST. Unlike the other SOST-related conditions, sclerosteosis and Van Buchem disease that are inherited as recessive traits seem to be caused by a dominant negative mechanism.
MeSH terms
Abnormalities, Multiple/geneticsBone Morphogenetic Proteins/*geneticsChildCraniofacial Abnormalities/geneticsFemaleGenetic Markers/*geneticsHumansMaleMutationProtein Interaction Domains and Motifs/*geneticsProtein Sorting Signals/*genetics
DOI
10.1007/s00439-011-0947-3
PMID
21221996
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Radiology
AJOU Authors
김, 옥화
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