Test Detail

Inflammatory pulmonary disease (IPD)

General · Dog

Recurrent inflammatory pulmonary disease described in the Collie (Rough Collie), with an autosomal recessive hereditary basis. It is due to a frameshift variant in AKNA, a transcription factor involved in regulating inflammatory responses. The clinical picture resembles primary ciliary dyskinesia, with chronic pulmonary inflammation and recurrent pneumonia.

Inheritance pattern	Autosomal recessive (segregation suggested by pedigree, with perfect genotype-phenotype agreement in homozygotes; OMIA002205-9615).
Gene / Mutation	AKNA c.2717_2720delACAG p.(Asp906Alafs*173) —CanFam3.1 g.68576241_68576244del; OMIA002205-9615—. The 4-bp deletion causes a frameshift and a premature stop codon, truncating 37% of the open reading frame. It was the only private homozygous protein variant detected in the critical regions and the genotype-phenotype agreement was perfect.
Penetrance	In the studied population, the three available homozygous dogs showed disease and all unaffected dogs were clear or heterozygous, suggesting high penetrance in homozygotes. The sample size is small (three cases), so there are no formal penetrance estimates.
Code	qmlo
Turnaround time	10 days
Price	52,60 €

Incidence

Described only in the Collie (Rough Collie). Among 88 genotyped dogs: 3 affected homozygotes, 67 clear and 18 heterozygotes (~20% carriers in that sample, which included relatives of the cases). There are no broad population frequencies (limited data).

Breeder management

- A genetic test is available for AKNA c.2717_2720delACAG.\n- Do not mate two carriers (25% affected homozygotes).\n- Mate carriers with clear dogs and retain only clear offspring for breeding.\n- Exclude affected animals from breeding.\n- Communicate the genetic status to breed breeders, given the low known frequency.

Specialist notes

Differential diagnosis with primary ciliary dyskinesia, chronic bacterial pneumonia, allergic respiratory disease and idiopathic pulmonary fibrosis. The AKNA variant was identified in a single family, so the association, although very robust (perfect agreement and comparative functional data in the Akna-/- mouse, with neonatal death from systemic inflammation), is based on few cases and should be confirmed in larger series. The test makes it possible to avoid affected litters.

References

1. Hug P et al. 2019. AKNA Frameshift Variant in Three Dogs with Recurrent Inflammatory Pulmonary Disease. Genes. PMID: 31357536
2. OMIA:002205-9615. Recurrent inflammatory pulmonary disease in Canis lupus familiaris. Online Mendelian Inheritance in Animals.

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