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Article

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients.

Genes - 16 Feb 2021

Bea-Mascato Brais, Solarat Carlos, Perea-Romero Irene, Jaijo Teresa, Blanco-Kelly Fiona, Millán José M, Ayuso Carmen, Valverde Diana

Abstract excerpt

Alström syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes. The symptomatology involves nystagmus, type 2 diabetes mellitus (T2D), obesity, dilated cardiomyopathy (DCM), neurodegenerative disorders and...

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Identifiers

PMID: 33669459
DOI: 10.3390/genes12020282
PMCID: PMC7920446

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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