Please use this identifier to cite or link to this item: http://hdl.handle.net/2381/44954
Title: Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies.
Authors: Ravesh, Z
Dianatpour, M
Fardaei, M
Taghdiri, M
Hashemi-Gorji, F
Yassaee, VR
Miryounesi, M
First Published: 19-Oct-2018
Publisher: Molecular Vision
Citation: Molecular Vision, 2018, 24:679-689
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.
ISSN: 1090-0535
Links: http://www.molvis.org/molvis/v24/679/
http://hdl.handle.net/2381/44954
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © the authors, 2018. This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Appears in Collections:Published Articles, Dept. of Genetics

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