Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies

Arash Salmaninejad; Nicola Bedoni; Zeinab Ravesh; Mathieu Quinodoz; Nasser Shoeibi; Majid Mojarrad; Alireza Pasdar; Carlo Rivolta

doi:10.1038/s41598-020-75841-9

Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies

Arash Salmaninejad, Nicola Bedoni, Zeinab Ravesh, Mathieu Quinodoz, Nasser Shoeibi, Majid Mojarrad, Alireza Pasdar^*, Carlo Rivolta

^*Corresponding author for this work

Applied Medicine

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Abstract

Inherited retinal dystrophies (IRDs), displaying pronounced genetic and clinical heterogeneity, comprise of a broad range of diseases characterized by progressive retinal cell death and gradual loss of vision. By the combined use of whole exome sequencing (WES), SNP-array and WES-based homozygosity mapping, as well as directed DNA sequencing (Sanger), we have identified nine pathogenic variants in six genes (ABCA4, RPE65, MERTK, USH2A, SPATA7, TULP1) in 10 consanguineous Iranian families. Six of the nine identified variants were novel, including a putative founder mutation in ABCA4 (c.3260A>G, p.Glu1087Gly), detected in two families from Northeastern Iran. Our findings provide additional information to the molecular pathology of IRDs in Iran, hopefully contributing to better genetic counselling and patient management in the respective families from this country.

Original language	English
Article number	19413
Number of pages	7
Journal	Scientific Reports
Volume	10
DOIs	https://doi.org/10.1038/s41598-020-75841-9
Publication status	Published - 10 Nov 2020

Bibliographical note

Acknowledgements
This research was funded by the Swiss National Science Foundation (Grant #176097 to CR). We would like to express gratitude to the patients and all their family members that participated in this study for their valuable cooperation and participation.

Keywords

Genetic variation
Genetics
genome
medical genetics
Mutation

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Cite this

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title = "Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies",

abstract = "Inherited retinal dystrophies (IRDs), displaying pronounced genetic and clinical heterogeneity, comprise of a broad range of diseases characterized by progressive retinal cell death and gradual loss of vision. By the combined use of whole exome sequencing (WES), SNP-array and WES-based homozygosity mapping, as well as directed DNA sequencing (Sanger), we have identified nine pathogenic variants in six genes (ABCA4, RPE65, MERTK, USH2A, SPATA7, TULP1) in 10 consanguineous Iranian families. Six of the nine identified variants were novel, including a putative founder mutation in ABCA4 (c.3260A>G, p.Glu1087Gly), detected in two families from Northeastern Iran. Our findings provide additional information to the molecular pathology of IRDs in Iran, hopefully contributing to better genetic counselling and patient management in the respective families from this country.",

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AU - Mojarrad, Majid

AU - Pasdar, Alireza

AU - Rivolta, Carlo

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Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies

Abstract

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