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Article

Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria.

European journal of medical genetics - 1 Feb 2014

Casey Jillian, McGettigan Paul, Brosnahan Donal, Curtis Emma, Treacy Eileen, Ennis Sean, Lynch Sally Ann

Abstract excerpt

We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dilated cardiomyopathy and retinopathy. A diagnosis of Alström Syndrome (AS) was considered and diagnostic testing pursued. The Alströms gene (ALMS1) is very large (23 exons) and diagnostic testing of mutational hotspots (exon 6, 8 and 10) was negative. Furthermore the siblings were tall and did not have the typical...

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Source

Identifiers

PMID: 24503146
DOI: 10.1016/j.ejmg.2014.01.007

Genes

ALMS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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