Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies

• Published in: Molecular vision 2018-10, Vol.24, p.679-689
• Main Authors: Ravesh, Zeinab, Dianatpour, Mahdi, Fardaei, Majid, Taghdiri, Maryam, Hashemi-Gorji, Feyzollah, Yassaee, Vahid Reza, Miryounesi, Mohammad
• Format: Article
• Language: English
• Subjects: Adult; Asian Continental Ancestry Group - genetics; ATP-Binding Cassette Transporters - genetics; Bioinformatics; Blindness; c-Mer Tyrosine Kinase - genetics; Child; CRB1 gene; DNA Mutational Analysis; Eye Diseases, Hereditary - diagnosis; Eye Diseases, Hereditary - genetics; Eye Proteins - genetics; Female; Frameshift mutation; Gene deletion; Genetic Predisposition to Disease; Humans; Infant; Iran; Low Density Lipoprotein Receptor-Related Protein-5 - genetics; LRP5 protein; Male; Membrane Proteins - genetics; MERTK gene; Missense mutation; Molecular Biology; Mutation; Nerve Tissue Proteins - genetics; Pedigree; Proteins - genetics; Retina; Retinal Dystrophies - diagnosis; Retinal Dystrophies - genetics; Whole Exome Sequencing
• ISSN: 1090-0535; 1090-0535

The aim of this study was to identify the molecular genetic basis of hereditary retinal dystrophies (HRDs) in five unrelated Iranian families. Whole exome sequencing and Sanger sequencing were performed in all families. Variants were analyzed using various bioinformatics databases and software. Based on the selected strategies, we identified potentially causative variants in five families with HRDs: the novel homozygous deletion mutation c.586_589delTTTG (p.F196Sfs*56) in the gene of family A, the novel homozygous missense mutation c.2389T>C (p.S797P) in the gene in family B, the novel homozygous frameshift mutation c.2707dupA (p.S903Kfs*66) in the gene in family C, the novel homozygous splice mutation c.584-1G>T in the gene in family D, and the novel homozygous missense mutation c.1819G>C (p.G607R) rs61749412 in the gene of family E. This study highlights the presence of five novel variants associated with retinal dystrophies in selected Iranian families with hereditary blindness.