A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.
Jeong, SY; Kim, BY; Kim, HJ; Yang, JA; Kim, OH
Journal of human genetics, 55(11):764-766, 2010
Journal of human genetics
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.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.
Total Visit :2,787,102
Total Download :1,136,352
Today View :832
Ajou University Medical Information & Media Center 164 Worldcup-ro Yeongtong-gu Suwon 16499 Korea / TEL : 031-219-5312 / FAX : 031-219-5314 Copyright (c) Ajou University Medical Information & Media Center All Rights Reserved. AJOU Open Repository는 국립중앙도서관 OAK 보급사업으로 구축되었습니다.