ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva
Copyright policy )ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva
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.
Adult, Male, Adolescent, Base Sequence, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Polymorphism, Single Nucleotide, Young Adult, Ecdysterone, Myositis Ossificans, Humans, Female, Activin Receptors, Type I, Genetic Association Studies
Adult, Male, Adolescent, Base Sequence, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Polymorphism, Single Nucleotide, Young Adult, Ecdysterone, Myositis Ossificans, Humans, Female, Activin Receptors, Type I, Genetic Association Studies
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