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Lethal acrodermatitis (LAD) of the Bull Terrier

Dermatológico · Dog

Lethal acrodermatitis (LAD) is a severe genetic disease of the Bull Terrier and the Miniature Bull Terrier, with autosomal recessive inheritance, caused by a splicing defect in the MKLN1 gene. It presents with erosive and scaling skin lesions on the limbs and muzzle, diarrhoea, pneumonia, growth retardation and immunodeficiency (with decreased IgA), and is usually lethal before two years of age.
Inheritance patternAutosomal recessive. Affected homozygotes show the disease; heterozygotes are healthy carriers.
Gene / MutationMKLN1 c.400+3A>C (chr14:g.5731405T>G) in the splice donor region; it causes skipping of exon 4 and a reading-frame shift. It is a splicing variant, not a missense mutation; OMIA002146-9615.
PenetranceHomozygotes for the variant develop LAD; the clinical expression is severe and the disease is lethal. Heterozygotes are asymptomatic. The variant is absent in other breeds, which supports its specificity and its causal effect.
Codekopw
Turnaround time10 days
Price52,60 €

Incidence

Described in the Bull Terrier and the Miniature Bull Terrier. No reliable population carrier frequencies are available; the variant has not been found in other breeds analysed.

Breeder management

- Genotype Bull Terrier and Miniature Bull Terrier breeding animals
- Do not mate two carriers: 25 % risk of affected puppies
- A carrier may be mated with a clear animal; test the offspring intended for breeding
- Exclude affected homozygotes from breeding
- Confirm the status before any mating, since carriers are healthy

Specialist notes

The differential diagnosis includes other canine dermatopathies and immunodeficiencies. The combination of acral lesions, arched palate, diarrhoea and recurrent infections in a young Bull Terrier is highly suggestive. Confirmation is molecular (MKLN1). It is important not to confuse this entity with other acrodermatitides or with simple colour dilution.

References

1. Bauer A et al. 2018. MKLN1 splicing defect in dogs with lethal acrodermatitis. PLoS Genet. PMID: 29565995
OMIA002146-9615.

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