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

doi:10.1186/s13023-025-04139-8

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Article

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

Orphanet journal of rare diseases - 29 Dec 2025

Huang Yiguo, Wang Libo, Zhang Qianwen, Gao Shiyang, Chang Guoying, Yu Tingting, Yao Ru-En, Ding Yu, Wang Xiumin

Abstract excerpt

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:...

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PMID: 41466426
DOI: 10.1186/s13023-025-04139-8
PMCID: PMC12751321

Genes

ALMS1

Variants

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