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

ERESEN YAZICIOĞLU Ç., Karatosun V. A., KIZILDAĞ S., Ozsoylu D., KAVUKÇU S.

GENE, cilt.515, sa.2, ss.444-446, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 515 Sayı: 2
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/j.gene.2012.12.005
  • Dergi Adı: GENE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.444-446
  • Anahtar Kelimeler: FOP, ACVR1, c.617G > A; p.R206H, c.774G > T; p.R258S
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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 Hphl restrictive enzyme digestion. In the fourth patient, a heterozygote c.774G>T; p.R258S mutation in exon 5 was detected by DNA sequence analysis. (C) 2012 Elsevier B.V. All rights reserved.