Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation inACVR1Gene: A Case Report and Review of Literature
| Autor: | Yahya Wahba, Nanees Salem, Sohier Yahia, Nermin Ahmad, Bothina Hasaneen, Amany Shams, Rasha H. Hassan, Mohammad Al-Haggar, Dina Abdel-Hady |
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| Rok vydání: | 2013 |
| Předmět: |
Pathology
medicine.medical_specialty lcsh:QH426-470 business.industry Chromosome Case Report Diagnostic marker General Medicine Disease Bone morphogenetic protein medicine.disease lcsh:Genetics ACVR1 Gene Fibrodysplasia ossificans progressiva Mutation (genetic algorithm) medicine Heterotopic ossification business |
| Zdroj: | Case Reports in Genetics Case Reports in Genetics, Vol 2013 (2013) |
| ISSN: | 2090-6552 2090-6544 |
| DOI: | 10.1155/2013/834605 |
| Popis: | Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant severe musculoskeletal disease characterized by extensive new bone formation within soft connective tissues and unique skeletal malformations of the big toes which represent a birth hallmark for the disease. Most of the isolated classic cases of FOP showed heterozygous mutation in theACVR1gene on chromosome 2q23 that encodes a bone morphogenetic protein BMP (ALK2). The most common mutation is (c.617G > A) leading to the amino acid substitution of arginine by histidine (p.Arg206His). We currently report on an Egyptian infant with a sporadic classic FOP in whom c.617G > A mutation had been documented. The patient presented with the unique congenital malformation of big toe and radiological evidence of heterotopic ossification in the back muscles. The triggering trauma was related to the infant's head, however; neither neck region nor sites of routine intramuscular vaccination given during the first year showed any ossifications. Characterization of the big toe malformation is detailed to serve as an early diagnostic marker for this rare disabling disease. |
| Databáze: | OpenAIRE |
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