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Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.

Scientific reports - 29 Sept 2021

Rehman Atta Ur, Sepahi Neda, Bedoni Nicola, Ravesh Zeinab, Salmaninejad Arash, Cancellieri Francesca, Peter Virginie G, Quinodoz Mathieu, Mojarrad Majid, Pasdar Alireza, Asad Ali Ghanbari, Ghalamkari Saman, Piran Mehran, Piran Mehrdad, Superti-Furga Andrea, Rivolta Carlo

Abstract excerpt

Inherited retinal dystrophies (IRDs) constitute one of the most heterogeneous groups of Mendelian human disorders. Using autozygome-guided next-generation sequencing methods in 17 consanguineous pedigrees of Iranian descent with isolated or syndromic IRD, we identified 17 distinct genomic variants in 11 previously-reported disease genes. Consistent with a recessive inheritance pattern, as suggested by pedigrees,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34588515
DOI: 10.1038/s41598-021-98677-3
PMCID: PMC8481312

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