期刊
JOURNAL OF HUMAN GENETICS
卷 55, 期 11, 页码 764-766出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2010.102
关键词
MMP2; mutation; osteolysis syndrome; skeletal displasia; Torg-Winchester syndrome
资金
- Ministry for Health, Welfare and Family Affairs, Republic of Korea [A050234, A080588]
- Korea Health Promotion Institute [A050234] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
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.1217G4A (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. Journal of Human Genetics (2010) 55, 764-766; doi:10.1038/jhg.2010.102; published online 19 August 2010
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