title: ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva.
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.
authors.affiliation: Dokuz Eylül University, Faculty of Medicine, Dept. of Medical Biology, İzmir, Turkey. cigdem.eresen@deu.edu.tr
authors.forename: Ciğdem
authors.initials: C
authors.lastname: Eresen Yazıcıoğlu
authors.forename: Vasfi
authors.initials: V
authors.lastname: Karatosun
authors.forename: Sefa
authors.initials: S
authors.lastname: Kızıldağ
authors.forename: Dua
authors.initials: D
authors.lastname: Ozsoylu
authors.forename: Salih
authors.initials: S
authors.lastname: Kavukçu
mesh_terms: D030201:Activin Receptors, Type I / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004441:Ecdysterone / Q000031:analogs & derivatives; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D009221:Myositis Ossificans / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D004441:Ecdysterone; C017787:turkesterone; C425423:ACVR1 protein, human; D030201:Activin Receptors, Type I