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

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

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 languageEnglish
Article number19413
Number of pages7
JournalScientific Reports
Volume10
DOIs
Publication statusPublished - 10 Nov 2020

Keywords

  • Genetic variation
  • Genetics
  • genome
  • medical genetics
  • Mutation

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