Alstrom syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.

ABSTRACT:

Background

Alström syndrome (ALMS) is a rare autosomal recessive multisystem disorder caused by biallelic pathogenic variants in the ALMS1 gene, characterized by progressive cone-rod dystrophy, early-onset obesity, cardiomyopathy, and multiorgan dysfunction. Despite its clinical significance, comprehensive and population-based studies of ALMS remain limited worldwide, particularly in Asian populations.

Methods

This cross-sectional and follow-up study enrolled 127 genetically confirmed Chinese ALMS patients (aged 1.0-35.1 years). Whole-exome sequencing (WES) identified ALMS1 variants, and echocardiography evaluated cardiac phenotypes. Retrospective analysis tracked LVEF changes in 11 infantile cardiomyopathy cases.

Results

A total of 132 distinct ALMS1 variants (254 al

SUBMITTER: Huang Y 

PROVIDER: S-EPMC12751321 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature