Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature
| Autor: | Andreas Zankl, Kobus Ungerer, Kausik Mandal, Tina L Maguire, Alka V. Ekbote, Sumita Danda |
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| Rok vydání: | 2014 |
| Předmět: |
Pathology
medicine.medical_specialty MMP2 Osteolysis Contracture Torg syndrome Endocrinology Diabetes and Metabolism Case Report Compound heterozygosity medicine.disease_cause Type IV collagen Endocrinology Corneal Opacity medicine Gelatinase Humans Abnormalities Multiple hirsutism Growth Disorders Basement membrane Mutation business.industry Homozygote medicine.disease Prognosis Review Literature as Topic medicine.anatomical_structure Pediatrics Perinatology and Child Health Matrix Metalloproteinase 2 Osteoporosis Female Follicle Stimulating Hormone business |
| Zdroj: | Journal of Clinical Research in Pediatric Endocrinology |
| ISSN: | 1308-5735 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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