Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene

European Journal of Pediatrics

Volumn 169, Issue 3, 2010, Pages 363-367

  Gok, Faysal ^a   Crettol, Lauréane Mittaz ^b   Alanay, Yasemin ^c   HacIhamdioglu, Bulent ^a   Kocaoglu, Murat ^a   Bonafe, Luisa ^b   Ozen, Seza ^c  

^a GULHANE SCHOOL OF MEDICINE   (Turkey)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Arthropathy; Chronic papilledema; Matrix metalloproteinase 2 gene mutation; Osteolysis syndromes; Subcutaneous nodules

Indexed keywords

ANTIINFLAMMATORY AGENT; GELATINASE A;

ADOLESCENT; AMINO ACID SEQUENCE; ARTHROPATHY; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; GENE MUTATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; JUVENILE RHEUMATOID ARTHRITIS; MALE; NUCLEOTIDE SEQUENCE; OSTEOLYSIS; OSTEOPENIA; OSTEOPOROSIS; PAPILLEDEMA; PRIORITY JOURNAL; RADIODIAGNOSIS; SIBLING; SUBCUTANEOUS NODULE;

ADOLESCENT; CHILD; HUMANS; JOINT DISEASES; MALE; MATRIX METALLOPROTEINASE 2; MUTATION; OSTEOLYSIS; PAPILLEDEMA;

EID: 77949267728     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-009-1028-7     Document Type: Article

References (12)

1. CM Erickson M Hirschberger GB Stickler 1978 Carpal-tarsal osteolysis J Pediatr 93 779 782 10.1016/S0022-3476(78)81076-2 1:STN:280: DyaE1M%2FkvF2rtA%3D%3D 712480
2. MR Faber R Verlaak TJ Fiselier, et al. 2004 Inherited multicentric osteolysis with carpal-tarsal localization mimicking juvenile idiopathic arthritis Eur J Pediatr 163 612 618 15290262
3. A Froelich D Corret 1937 Ostéolyse du carpe Rev Med Nancy 65 696 699
4. RA Mosig O Dowling A DiFeo, et al. 2007 Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth Hum Mol Genet 1 16 1113 1123 10.1093/hmg/ddm060 (Pubitemid 47062731)
5. M Hirooka M Hirota 1985 Chronic nephropathy in idiopathic multicentric osteolysis Int J Pediatr Nephrol 6 145 150 1:STN:280:DyaL2M3oslylug%3D%3D 3897091
6. JA Martignetti AA Aqeel WA Sewairi, et al. 2001 Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome Nat Genet 28 261 265 10.1038/90100 1:CAS:528:DC%2BD3MXltFSmtrg%3D 11431697 (Pubitemid 32626029)
7. C Rouzier R Vanatka S Bannwarth, et al. 2006 A novel homozygous MMP2 mutation in a family with Winchester syndrome Clin Genet 69 271 276 10.1111/j.1399-0004.2006.00584.x 1:STN:280:DC%2BD287ltlCgsg%3D%3D 16542393 (Pubitemid 43349011)
8. I Stamenkovic 2003 Extracellular matrix remodelling: the role of matrix metalloproteinases J Pathol 200 448 464 10.1002/path.1400 1:CAS:528: DC%2BD3sXnvF2ns7g%3D 12845612 (Pubitemid 36818245)
9. D Wenkert S Mumm SM Wiegand, et al. 2007 Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy Clin Orthop Relat Res 462 80 86 10.1097/BLO.0b013e3180d09db8 17563705 (Pubitemid 47367847)
10. A Zankl L Bonafe V Calcaterra, et al. 2005 Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2 Clin Genet 67 261 266 10.1111/j.1399-0004.2004.00402.x 1:STN:280: DC%2BD2M%2FmtlagtA%3D%3D 15691365 (Pubitemid 40277907)
11. A Zankl L Pachman A Poznanski, et al. 2007 Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome J Bone Miner Res 22 329 333 10.1359/jbmr.061013 1:CAS:528:DC%2BD2sXhvFCgsL4%3D 17059372 (Pubitemid 46167803)
12. W Zhao MH Byrne Y Wang SM Krane 2000 Osteocyte and osteoblast apoptosis and excessive bone deposition accompany failure of collagenase cleavage of collagen J Clin Invest 106 941 949 10.1172/JCI10158 1:CAS:528: DC%2BD3cXnsVeisb8%3D 11032854