ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva

摘要

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. ? 2012 Elsevier B.V.