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A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.

Authors
Jeong, SY; Kim, BY; Kim, HJ; Yang, JA; Kim, OH
Citation
Journal of human genetics, 55(11):764-766, 2010
Journal Title
Journal of human genetics
ISSN
1434-51611435-232X
Abstract
Torg-Winchester syndrome (OMIM 259600) is an autosomal recessive multicentric osteolysis disorder. Mutations in the gene for matrix metalloproteinase 2 (MMP2) are involved in its pathogenesis. This is the first report of Torg-Winchester syndrome in east Asians. A 31-year-old female Korean patient had the typical clinical phenotypes of the syndrome, including shortening of trunk and limbs and severe osteolysis resulting in extremely small hands and feet. In addition, she had cord compression at the cervico-medullary junction, as well as lumbar dural ectasia. Molecular analysis revealed a novel homozygous missense mutation of MMP2, c.1217G>A (p.G406D). Gelatin zymography demonstrated a complete loss of the MMP2 activity of the mutation. Our results provide insights into the clinical and radiological features and pathogenic mechanisms of the syndrome.
MeSH terms
FemaleHomozygoteHumansMatrix Metalloproteinase 2/*genetics*Mutation, MissenseOsteolysis/genetics/pathology/radiographyRepublic of KoreaSyndrome
DOI
10.1038/jhg.2010.102
PMID
20720557
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Radiology
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
AJOU Authors
정, 선용김, 현주김, 옥화
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