Categories: Hearing / vestibular / ear phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 605514 (gene) , 602083 (trait) , 601067 (trait)

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2026

Molecular basis: Petzl et al. (2026): "Whole-genome sequencing of two affected kids, compared with large control cohorts, revealed a single rare nonsense variant in exon 5 of the PCDH15 gene encoding protocadherin-15. This variant truncates approximately 93% of the protein and is homologous to a pathogenic variant that causes Usher syndrome type 1F in humans. Sanger sequencing confirmed homozygosity in affected animals and heterozygosity in obligate carriers."

Clinical features: Petzl et al. (2026): "The affected kids displayed pronounced, sometimes exuberant, wide bilateral excursions of the head and neck, delayed standing, wide-based stance, and poor postural control, while remaining alert and physically strong. Motor coordination improved with age. One retained female displayed mild persistent deficits and suspected hearing impairment in adulthood."

Pathology: Petzl et al. (2026): "Postmortem examinations were unremarkable"

Breed: Bunte Deutsche Edelziege.
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene: