Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - A case report and review of the literature

Ekbote, Alka V., Danda, Sumita, Zankl, Andreas, Mandal, Kausik, Maguire, Tina and Ungerer, Kobus (2014) Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - A case report and review of the literature. Journal of Clinical Research in Pediatric Endocrinology, 6 1: 40-46. doi:10.4274/Jcrpe.1166


Author Ekbote, Alka V.
Danda, Sumita
Zankl, Andreas
Mandal, Kausik
Maguire, Tina
Ungerer, Kobus
Title Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - A case report and review of the literature
Journal name Journal of Clinical Research in Pediatric Endocrinology   Check publisher's open access policy
ISSN 1308-5735
1308-5735
Publication date 2014-01-01
Sub-type Article (original research)
DOI 10.4274/Jcrpe.1166
Volume 6
Issue 1
Start page 40
End page 46
Total pages 7
Place of publication Istanbul, Turkey
Publisher Turkish Pediatric Endocrinology and Diabetes Society
Language eng
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.
Keyword MMP2
Osteolysis
Torg syndrome
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: UQ Centre for Clinical Research Publications
Official 2015 Collection
School of Health and Rehabilitation Sciences Publications
 
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Citation counts: TR Web of Science Citation Count  Cited 8 times in Thomson Reuters Web of Science Article | Citations
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