Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients.
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.
Department of Ophthalmology, Haydarapasa Numune Training and Research Hospital, Uskudar, Istanbul, Turkey handanbardak@yahoo.com.tr.
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Bardak
Department of Ophthalmology, Zeynep Kamil Maternity and Children's Diseases Training and Research Hospital, Uskudar, Istanbul, Turkey.
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Gunay
Department of Ophthalmology, Haydarapasa Numune Training and Research Hospital, Uskudar, Istanbul, Turkey.
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Erçalık
Department of Ophthalmology, Haydarapasa Numune Training and Research Hospital, Uskudar, Istanbul, Turkey.
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Bardak
Department of Medical Genetics, Faculty of Medicine, Suleyman Demirel University, Isparta, Turkey.
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Ozbas
Department of Medical Genetics, Faculty of Medicine, Suleyman Demirel University, Isparta, Turkey.
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Bagci
Department of Ophthalmology, GATA Haydarapasa Training and Research Hospital, Uskudar, Istanbul, Turkey.
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Ayata
Department of Ophthalmology, GATA Haydarapasa Training and Research Hospital, Uskudar, Istanbul, Turkey.
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Sönmez
Prof. Dr. N. Resat Belger Beyoglu Eye Training and Research Hospital, Istanbul, Turkey.
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Alagöz
D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008268:Macular Degeneration / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D064531:Peripherins / Q000235:genetics*; D000080362:Stargardt Disease; D014421:Turkey
C418975:ELOVL4 protein, human; D005136:Eye Proteins; D008565:Membrane Proteins; C578997:PRPH2 protein, human; D064531:Peripherins