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2 records shown · first 60Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene.
PMID 15756348 · Saudi medical journal · 2005 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | R101H | “Other affected members had a missense mutation in exon 2 arginine 101-histidine (R101H) leading to no MMP-2 enzyme activity in serum or fibroblast or both of affected individuals.” | 0.82 | literature_variant_regex_v2 |
| gene | MMP2 | “CONCLUSION: The discovery that deficiency of this well-characterized gelatinase/collagenase results in an inherited form of an osteolytic and arthritic disorder provides an invaluable insights for the understanding of osteolysis and arthritis and is the first genetic evidence that MMP2 deficiency is important in growth and development.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Riyadh | “OBJECTIVE: We report a distinctive autosomal recessive multicentric osteolysis in Saudi Arabian families with distal arthropathy of the metacarpal, metatarsal and interphalangeal joints, with ultimate progression to the proximal joints with decreased range of movements and deformities with ankylosis and generalized osteopenia. METHODS: Using a genome-wide search for microsatellite markers from 11 members of the family from the Armed Forces Hospital and King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia, localized the disease gene to chromosome 16q12-21.” | 0.95 | saudi_context_rules_v1 |
| variant | Y244X | “RESULTS: Some affected individuals were homoallelic for a nonsense mutation (TCA>TAA) in codon 244 of exon 5, predicting the replacement of a tyrosine residue by a stop codon in the first fibronectin type II domain (Y244X).” | 0.82 | literature_variant_regex_v2 |
Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.
PMID 11431697 | DOI 10.1038/90100 · Nature genetics · 2001 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | R101H | “We identified two family-specific homoallelic MMP2 mutations: R101H and Y244X.” | 0.82 | literature_variant_regex_v2 |
| gene | MMP2 | “Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.” | 0.98 | hgnc_dict_v1 |
| gene | TIMP2 | “The nonsense mutation effects a deletion of the substrate-binding and catalytic sites and the fibronectin type II-like and hemopexin/TIMP2 binding domains.” | 0.98 | hgnc_dict_v1 |
| phenotype | rheumatoid arthritis | “The multicentric osteolyses are notable for interphalangeal joint erosions that mimic severe juvenile rheumatoid arthritis (OMIMs 166300, 259600, 259610 and 277950).” | 0.98 | phenotype_alias_lexicon_v2 |