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ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva |
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| Authors: | Çiğdem Eresen Yazıcıoğlu Vasfi Karatosun Sefa Kızıldağ Dua Özsoylu Salih Kavukçu |
| Institution: | 1. Dokuz Eylül University, Faculty of Medicine, Dept. of Medical Biology, ?zmir, Turkey;2. Dokuz Eylül University, Faculty of Medicine, Dept. of Orthopedics and Traumatology, ?zmir, Turkey;3. Dokuz Eylül University, Faculty of Medicine, Dept. of Pediatrics, ?zmir, Turkey;4. Dokuz Eylul University, Institute of Health Sciences, Dept. of Medical Biology, ?zmir, Turkey |
| Abstract: | Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized with congenital malformations of the great toes and progressive heterotopic ossifications in the skeletal muscles and soft tissue. FOP has been associated with a specific point mutation on the ACVR1 (Activin A receptor type I) gene. Four sporadic cases clinically diagnosed as FOP have been included in this study for mutational analysis. In three patients, heterozygote c.617G > A; p.R206H mutation was detected by both DNA sequence analyses and by HphI restrictive enzyme digestion. In the fourth patient, a heterozygote c.774G > T; p.R258S mutation in exon 5 was detected by DNA sequence analysis. |
| Keywords: | ACVR1 activin A receptor type I gene ALK2 activin-like kinase 2 gene BMP bone morphogenetic protein Bp base pair(s) DNA deoxyribonucleic acid dNTP deoxyribonucleoside triphosphate FOP fibrodysplasia ossificans progressiva GS glycine serine miRNA micro ribonucleic acid PCR polymerase chain reaction siRNA small interfering ribonucleic acid SNP single nucleotide polymorphism |
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