Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies.
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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.
SUBMITTER: Ravesh Z
PROVIDER: S-EPMC6197863 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Publications
Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies.
Ravesh Zeinab Z Dianatpour Mahdi M Fardaei Majid M Taghdiri Maryam M Hashemi-Gorji Feyzollah F Yassaee Vahid Reza VR Miryounesi Mohammad M
Molecular vision 20181019
<h4>Purpose</h4>The aim of this study was to identify the molecular genetic basis of hereditary retinal dystrophies (HRDs) in five unrelated Iranian families.<h4>Methods</h4>Whole exome sequencing and Sanger sequencing were performed in all families. Variants were analyzed using various bioinformatics databases and software.<h4>Results</h4>Based on the selected strategies, we identified potentially causative variants in five families with HRDs: the novel homozygous deletion mutation c.586_589del ...[more]
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