Leukocyte Adhesion Deficiency (LAD) Type III

Gene: FERMT3

Transmission: Autosomal recessive

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: Insertion, FERMT3 gene; c.1359 ins.12pb, p.(L450_451 Ins RRLP), exon12

Medical system: Blood, immune

Breeds: German Shepherd, Rottweiler

References:

OMIA link: [1525-9615]

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]

Boudreaux MK, Wardrop KJ, Kiklevich V, et al. (2010) A mutation in the canine Kindlin-3 gene associated with increased bleeding risk and susceptibility to infections. Thromb Haemost. 103(2):475-7. [pubmed/20126836]