Categories: Respiratory system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 605729 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2019

Inheritance: Hug et al. (2019): "Pedigree analysis suggested a recessive mode of inheritance".

Mapping: Hug et al. (2019): "Combined linkage and homozygosity mapping in three cases and seven non-affected family members delineated 19 critical intervals on 10 chromosomes comprising a total of 99 Mb."

Molecular basis: Comparison by Hug et al. (2019) of the genome sequence of one affected dog with the sequences of 601 control genomes showed that "only a single private homozygous protein-changing variant" was located within the candidate region of chromosome CFA10. "The detected variant was a 4 bp deletion, c.2717_2720delACAG, in the AKNA gene encoding the AT-hook transcription factor. It causes a frame-shift introducing a premature stop codon and truncates 37% of the open reading frame, p.(Asp906Alafs*173)".

Clinical features: Hug et al. (2019): "The clinical symptoms were similar to primary ciliary dyskinesia (PCD) [OMIA 001540-9615]. However, the affected dogs did not carry any known pathogenic PCD variants"

Prevalence: Hug et al. (2019) "genotyped 88 Rough Collies consisting of family members and unrelated individuals. All three available cases were homozygous for the mutant allele and all 85 non-affected dogs were either homozygous wildtype (n = 67) or heterozygous (n = 18)".

Breed: Collie Rough (Dog) (VBO_0200376).
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: