OMIA 002205-9615 : Recurrent inflammatory pulmonary disease in Canis lupus familiaris

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: 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: Rough Collie.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
AKNA AT-hook transcription factor Canis lupus familiaris 11 NC_006593.3 (68600724..68561522) AKNA Homologene, Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Rough Collie Recurrent inflammatory pulmonary disease AKNA deletion, small (<=20) CanFam3.1 11 g.68,576,241_68,576,244delCTGT c.2717_2720delACAG p.(Asp906Alafs*173) XM_014117950.2: c.2717_2720delACAG; XP_013973425.1:p.(Asp906Alafs*173) 2019 31357536

Reference


2019 Hug, P., Anderegg, L., Kehl, A., Jagannathan, V., Leeb, T. :
<i>AKNA</i> Frameshift Variant in Three Dogs with Recurrent Inflammatory Pulmonary Disease. Genes (Basel) 10:, 2019. Pubmed reference: 31357536. DOI: 10.3390/genes10080567.

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  • Created by Frank Nicholas on 05 Sep 2019