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

Scientific reports - 10 Nov 2020

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

Abstract excerpt

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...

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Share to DNA Mutational Analysis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33173045
DOI: 10.1038/s41598-020-75841-9
PMCID: PMC7655865

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