Article
Clinical Presentation of a Child With a Novel ALMS1 Variant Associated With Alström Syndrome and Favorable Response to GLP-1 Receptor Agonist Therapy.
American journal of medical genetics. Part A - 1 May 2026
Alvarez Griselda, Huang Alden, Grody Wayne W, Yazdani Shahram
Abstract excerpt
Alström syndrome (AS) is a rare autosomal-recessive ciliopathy caused by biallelic variants in ALMS1, with an incidence of 1 in 10,000 to 1 in 1,000,000 live births. We report a female diagnosed at age 5 with a previously unreported homozygous nonsense variant in ALMS1: c.4740C>G (p.Tyr1580Ter), located in exon 8, a known hotspot for pathogenic variants. The variant aligns with the loss-of-function mechanism seen...
Topics
- Humans
- Female
- Alstrom Syndrome
- Cell Cycle Proteins
- Child, Preschool
- Glucagon-Like Peptide-1 Receptor Agonists
- Recombinant Fusion Proteins
- Codon, Nonsense
- Glucagon-Like Peptide-1 Receptor
- Phenotype