Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients

BARDAK H., Gunay M., ERÇALIK Y., BARDAK Y., ÖZBAŞ H., BAĞCI Ö., ...Daha Fazla

GENETICS AND MOLECULAR RESEARCH, cilt.15, sa.4, 2016 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15 Sayı: 4
  • Basım Tarihi: 2016
  • Doi Numarası: 10.4238/gmr15048774
  • Dergi Adı: GENETICS AND MOLECULAR RESEARCH
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Anahtar Kelimeler: ELOVL4 gene, PRPH2 gene, Stargardt disease, MACULAR DYSTROPHY, XYLENE MONOOXYGENASE, DEGENERATION, MUTATIONS, MICE, PROTEIN, DESATURASE, PHENOTYPE, HAPLOINSUFFICIENCY, EXPRESSION
  • Karadeniz Teknik Üniversitesi Adresli: Hayır

Özet

Stargardt disease (STGD) is an inherited genetic eye condition involving bilateral macular dystrophy leading to progressive central vision loss. It is the most common form of autosomal recessive juvenile macular dystrophy. In this study, ELOVL4 and PRPH2 genes were analyzed in 30 STGD probands for genetic variations using next-generation sequencing. In the patient group, two genetic variants in exon 6 of ELOVL4, and three in exon 3 of PRPH2 were detected. All sequence modifications in both ELOVL4 and PRPH2 were recorded, including those of a non-pathogenic nature. In the control group, four different genetic variations were detected in ELOVL4, and five in PRPH2. STGD patients of different ethnicities may carry distinct ELOVL4 and PRPH2 sequence variants. We believe that the genetic variations identified in this study may be related to STGD etiopathogenesis.