Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2021 Apr 30

PMID 33921607

Authors

Bilal Azab

Zain Dardas

Dunia Aburizeg

Muawyah Al-Bdour

Mohammed Abu-Ameerh

Tareq Saleh

Raghda Barham

Ranad Maswadi

Nidaa A Ababneh

Mohammad Alsalem

Hana Zouk

Sami Amr

Abdalla Awidi

Affiliations

Soon will be listed here.

Abstract

Whole Exome Sequencing (WES) is a powerful approach for detecting sequence variations in the human genome. The aim of this study was to investigate the genetic defects in Jordanian patients with inherited retinal dystrophies (IRDs) using WES. WES was performed on proband patients' DNA samples from 55 Jordanian families. Sanger sequencing was used for validation and segregation analysis of the detected, potential disease-causing variants (DCVs). Thirty-five putatively causative variants (6 novel and 29 known) in 21 IRD-associated genes were identified in 71% of probands (39 of the 55 families). Three families showed phenotypes different from the typically reported clinical findings associated with the causative genes. To our knowledge, this is the largest genetic analysis of IRDs in the Jordanian population to date. Our study also confirms that WES is a powerful tool for the molecular diagnosis of IRDs in large patient cohorts.

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