Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

ABSTRACT:

Purpose

Genetic variation underlying rare diseases in Arab populations is poorly understood limiting effective carrier screening for recessive disorders, which are prevalent because of high consanguineous rates.

Methods

Using the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines, we curated pathogenic (P) and likely pathogenic (LP) variants in 1333 Arab Emirati families (346 internal cohort and 987 from the literature). We also analyzed P/LP variants in 1194 Emirati exomes, calculated allele frequencies, and estimated carrier rates for the associated recessive conditions.

Results

Among the 1333 families, 1060 had 701 variants meeting the American College of Medical Genetics and Genomics/Association for Molecular Pathology

SUBMITTER: Jain R 

PROVIDER: S-EPMC12397869 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature