CLINICAL CHARACTERISTICS: The phenotypic spectrum in individuals with a genetic alteration involving PUF60 (i.e., PUF60 -related disorders) is a continuum in which most individuals have mild-to-moderate developmental delay with variable multisystem features, most commonly short stature, muscular hypotonia, and skeletal involvement....
✦ The floor
Discussion
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Audiologists encountering patients with PUF60-related disorders should be aware that sensorineural hearing loss may be part of the syndrome; however, this GeneReviews entry is a descriptive clinical reference, not a new intervention study, so no change to audiological management protocols is warranted beyond standard syndromic hearing loss evaluation.
As genetic testing becomes routine in audiology, updated reference entries like this help clinicians recognize and properly manage the audiological features of rare syndromic conditions linked to specific gene variants.
- 01GeneReviews entry for PUF60-related disorders was updated in July 2026.
- 02PUF60 gene variants cause a spectrum of syndromic features that may include hearing loss.
- 03The entry covers phenotypic (observable trait) spectrum and clinical characteristics.
- 04Relevant for audiologists working in genetics clinics or seeing patients with undiagnosed syndromic hearing loss.
- 05No new treatment or intervention data is presented; this is a clinical reference update.
PUF60-related disorders present with a defined phenotypic spectrum including clinical characteristics documented in GeneReviews.
guidelinepartially supported- PMID
- 42520151
- Journal
- GeneReviews (NCBI Bookshelf)
- Publication type
- review
- Evidence level
- 5
- Population
- Individuals with PUF60 gene variants presenting with syndromic features across the phenotypic spectrum
- Intervention
- Descriptive review of PUF60-related disorder phenotypes and clinical characteristics
Primary outcomes
Phenotypic spectrum of PUF60-related disorders; Clinical characteristics and diagnostic criteria