title: Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature.
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.
authors.affiliation: Christian Medical College, Clinical Genetics Unit, Vellore, India. E-ma-il: alkasethi@cmcvellore.ac.in.
authors.forename: Alka V
authors.initials: AV
authors.lastname: Ekbote
authors.forename: Sumita
authors.initials: S
authors.lastname: Danda
authors.forename: Andreas
authors.initials: A
authors.lastname: Zankl
authors.forename: Kausik
authors.initials: K
authors.lastname: Mandal
authors.forename: Tina
authors.initials: T
authors.lastname: Maguire
authors.forename: Kobus
authors.initials: K
authors.lastname: Ungerer
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D003286:Contracture / Q000235:genetics* / Q000473:pathology; D003318:Corneal Opacity / Q000235:genetics* / Q000473:pathology; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006130:Growth Disorders / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D020778:Matrix Metalloproteinase 2 / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010014:Osteolysis / Q000235:genetics* / Q000473:pathology; D010024:Osteoporosis / Q000235:genetics* / Q000473:pathology; D011379:Prognosis; D012196:Review Literature as Topic
chemical_list: D005640:Follicle Stimulating Hormone; C522361:MMP2 protein, human; D020778:Matrix Metalloproteinase 2