Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by biallelic pathogenic variants in the ALMS1 gene. The condition is characterized by a spectrum of clinical manifestations, including cone-rod dystrophy, sensorineural hearing loss, metabolic disturbances, and progressive multiorgan involvement....
No actionable change for general audiology practice — this case report expands the known genetic variants of Alström syndrome, which is relevant for geneticists and audiologists managing rare syndromic hearing loss in specialist settings only.
Identifying novel ALMS1 variants expands the genetic atlas of syndromic hearing loss, which is essential for accurate genetic counseling and early diagnosis in patients with multisystem ciliopathies.
- 01Two novel ALMS1 gene variants identified in a single patient with suspected Alström syndrome.
- 02Alström syndrome is a rare autosomal recessive ciliopathy (disorder of tiny hair-like cell structures) with hearing loss as a key feature.
- 03Case report design — findings cannot be generalized without further study.
- 04Relevant for genetic counseling panels and expanding variant databases used in rare disease diagnosis.
- 05Hearing loss in Alström syndrome is typically progressive sensorineural and may require amplification or implantation.
Two previously unreported ALMS1 gene variants were identified in a patient presenting with features of Alström syndrome.
studysupported- PMID
- 42394948
- DOI
- 10.3389/fgene.2026.1821427.
- Journal
- Frontiers in Genetics
- Publication type
- case_report
- Evidence level
- 4
- Sample size
- 1
- Population
- Single patient with ciliopathy resembling Alström syndrome
- Intervention
- Genetic sequencing for ALMS1 variants
Primary outcomes
Identification of novel ALMS1 pathogenic variants; Genotype-phenotype correlation in Alström syndrome