Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alstrom Syndrome Patients From Two Unrelated Saudi Families.

ABSTRACT: Background: Alström syndrome (AS) is a very rare childhood disorder characterized by cardiomyopathy, progressive hearing loss and blindness. Inherited genetic variants of ALMS1 gene are the known molecular cause of this disease. The objective of this study was to characterize the genetic basis and understand the genotype-phenotype relationship in Saudi AS patients. Methods: Clinical phenotyping and whole-exome sequencing (WES) analysis were performed on six AS patients belonging to two unrelated consanguineous Saudi families. Sanger sequencing was performed to determine the mode of inheritance of ALMS1 variant in first-degree family relatives and also to ensure its rare prevalence in 100 healthy population controls. Results: We identified that Alström patients from bot

SUBMITTER: Saadah OI 

PROVIDER: S-EPMC8107379 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature