Lung Developmental Disease

Gene: LAMP3

Transmission: Autosomal recessive (lethal)

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease. Both parents of an affected animal must be carriers of at least one copy of the mutation. Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, LAMP3 gene; c.1159 G>A, p.(E387K)

Medical system: Respiratory

Breeds: Airedale Terrier, American Staffordshire Terrier/Amstaff

References:

OMIA link: [2251-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Dillard KJ, Ochs M, Niskanen JE, et al. (2020) Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs. PLoS Genet 16:e1008651.  [pubmed/32150563]