1. Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies
- Author
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Ravesh, Zeinab, Dianatpour, Mahdi, Fardaei, Majid, Taghdiri, Maryam, Farzad Hashemi-Gorji, Yassaee, Vahid Reza, and Miryounesi, Mohammad
- Subjects
Adult ,Male ,c-Mer Tyrosine Kinase ,DNA Mutational Analysis ,Infant ,Membrane Proteins ,Proteins ,Eye Diseases, Hereditary ,Nerve Tissue Proteins ,Iran ,Pedigree ,Cytoskeletal Proteins ,Low Density Lipoprotein Receptor-Related Protein-5 ,Asian People ,Retinal Dystrophies ,Exome Sequencing ,Humans ,ATP-Binding Cassette Transporters ,Female ,Genetic Predisposition to Disease ,Child ,Eye Proteins ,Molecular Biology ,Research Article - Abstract
Purpose The aim of this study was to identify the molecular genetic basis of hereditary retinal dystrophies (HRDs) in five unrelated Iranian families. Methods Whole exome sequencing and Sanger sequencing were performed in all families. Variants were analyzed using various bioinformatics databases and software. Results 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 TTC8 gene of family A, the novel homozygous missense mutation c.2389T>C (p.S797P) in the CRB1 gene in family B, the novel homozygous frameshift mutation c.2707dupA (p.S903Kfs*66) in the LRP5 gene in family C, the novel homozygous splice mutation c.584–1G>T in the MERTK gene in family D, and the novel homozygous missense mutation c.1819G>C (p.G607R) rs61749412 in the ABCA4 gene of family E. Conclusions This study highlights the presence of five novel variants associated with retinal dystrophies in selected Iranian families with hereditary blindness.