Unraveling Alstrom syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.

ABSTRACT:

Background

Alström syndrome (AS) represents an exceptionally rare genetic disorder characterized by a constellation of features including cardiomyopathy, progressive hearing and vision impairment, as well as obesity. This study seeks to elucidate the genetic underpinnings of this syndrome within the Saudi Arabian population.

Methods

Employing an extended family cohort, we conducted an exhaustive molecular genetic assessment to delineate the presence of Alström syndrome. Additionally, we conducted an extensive review of existing literature from Saudi population to contextualize our findings within the broader understanding of the disorder in our country.

Results

Within our studied extended family, we identified two individuals harboring the homozygous pathogenic mutati

SUBMITTER: Abosabie SAS 

PROVIDER: S-EPMC10767606 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature