title: A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.
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.
authors: Department of Medical Genetics, School of Medicine, Ajou University, Suwon, Korea.
authors: Seon-Yong
authors: SY
authors: Jeong
authors: Bo-Young
authors: BY
authors: Kim
authors: Hyon J
authors: HJ
authors: Kim
authors: Jeong-A
authors: JA
authors: Yang
authors: Ok-Hwa
authors: OH
authors: Kim
mesh_terms: D005260:Female; D006720:Homozygote; D006801:Humans; D020778:Matrix Metalloproteinase 2 / Q000235:genetics*; D020125:Mutation, Missense; D010014:Osteolysis / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D011859:Radiography; D056910:Republic of Korea; D013577:Syndrome
chemical_list: D020778:Matrix Metalloproteinase 2