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

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posted on 24.07.2019, 14:31 by Z Ravesh, M Dianatpour, M Fardaei, M Taghdiri, F Hashemi-Gorji, VR Yassaee, M Miryounesi
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.

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Citation

Molecular Vision, 2018, 24:679-689

Author affiliation

/Organisation/COLLEGE OF LIFE SCIENCES/Biological Sciences/Genetics and Genome Biology

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VoR (Version of Record)

Published in

Molecular Vision

Publisher

Molecular Vision

issn

1090-0535

Acceptance date

17/10/2018

Copyright date

2018

Available date

24/07/2019

Publisher version

http://www.molvis.org/molvis/v24/679/

Language

en

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