ReviewJournal of clinical research in pediatric endocrinology2014
Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature.
Review in Journal of clinical research in pediatric endocrinology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Article
- A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome.Bone reports · 2024Article
- Multicentric Osteolysis Nodulosis and Arthropathy (MONA): A Case Series and Review of the Literature.Mediterranean journal of rheumatology · 2024Article
- Premature Thelarche: An Updated Review.Current pediatric reviews · 2024Review
- Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy.BMC musculoskeletal disorders · 2023Article
- Article
- A novel gene mutation for multicentric osteolysis nodulosis and arthropathy: Case report and review of literature.Heliyon · 2023Article
- Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations.Bone reports · 2021Article
- French recommendations for the management of systemic sclerosis.Orphanet journal of rare diseases · 2021Article
- Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach.Scientific reports · 2016Article
- Identification of a Novel Heart-Liver Axis: Matrix Metalloproteinase-2 Negatively Regulates Cardiac Secreted Phospholipase A2 to Modulate Lipid Metabolism and Inflammation in the Liver.Journal of the American Heart Association · 2015Article
- Crispld2 is required for neural crest cell migration and cell viability during zebrafish craniofacial development.Genesis (New York, N.Y. : 2000) · 2015Article
- Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.Italian journal of pediatrics · 2015Review
- Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.Journal of human genetics · 2014Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Torg and Winchester syndromes and patients reported by Al-AqeelSawairi as well as nodulosis-arthropathy-osteolysis (NAO) patients, patients with multicentric NAO share autosomal recessive inheritance. The common presenting symptomatology includes progressive osteolysis chiefly affecting the carpal, tarsal and interphalangeal joints. Here, we report a patient with Torg syndrome. Torg syndrome is caused by homozygous or compound heterozygous mutations in the matrix metalloproteinase 2 (MMP2) gene. MMP2 codes for a gelatinase that cleaves type IV collagen, a major component of basement membrane. The clinical presentation of our patient included moderate osteolysis of the small joints of the hands and knees, hirsutism, nodulosis sparing the palms and soles, corneal opacities and mild facial dysmorphism without gum hypertrophy. Genetic analysis showed that the patient was homozygous for a novel base variant c538 G>A (p.D180N) in the MMP2 gene. Both parents were carriers of the same mutated variant. Our patient had some previously unreported endocrine manifestations such as premature thelarche and elevated follicle-stimulating hormone levels.
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