Categories: Respiratory system phene , Cellular phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 607652 (gene) , 619436 (trait)

Links to relevant human diseases in MONDO:

• MONDO:0030332: ciliary dyskinesia, primary, 46

Mendelian trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2023

Molecular basis: Christen et al. (2023): "Whole genome sequencing data from the affected dog was obtained and searched for variants in PCD candidate genes that were not present in 918 control genomes from different breeds. This revealed a homozygous single base pair exchange at a splice site of STK36, XM_038585732.1:c.2868-1G>A. The mutant allele was absent from 281 additionally genotyped Australian Shepherd dogs. RT-PCR confirmed aberrant splicing in the affected dog with the skipping of exon 20 and the insertion of a cryptic exon, which is predicted to lead to a premature stop codon and truncation of 36% of the STK36 wild-type open reading frame, XP_038441660.1:(p.Met957Profs*11)."

Clinical features: Christen et al. (2023) "investigated an Australian Shepherd dog with a history of recurrent respiratory infections and nasal discharge." Disease onset was noticed at 8 weeks of age. The impaired mucociliary clearance and resulting recurrent airway infections required frequent treatments. The dog was 6 years old at the time of the investigation by Christen et al. (2023).

Pathology: Christen et al. (2023): "A transmission electron microscopy investigation led to the diagnosis of PCD with central pair defect, in which the normal 9:2 arrangement of respiratory cilia was altered and reduced to a 9:0 arrangement."

Breed: Australian Shepherd (Dog) (VBO_0200095).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: