Limb-girdle Muscular Dystrophy, Type R6

Gene: SGCD

Transmission: Autosomal recessive (probably)

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.

Mutations:

Boston Terrier mutation (I): Deletion, SGCD gene; c.534_535 del. GA, p.(E178D fs STOP 3)

Boston Terrier mutation (II): Insertion, deletion, SGCD gene; g.[5326018] ATG>CC, del. 19,403 bp

Lagotto Romagnolo mutation: Substitution, SGCD gene; c.725 T>C, p.(L242P)

Medical system: Muscular

Breeds: Boston Terrier, Lagotto Romagnolo

References: 

OMIA link: [2122-9615]

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]

Cox ML, Evans JM, Davis AG, et al. (2017) Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. Skelet Muscle 7:15. [pubmed/28697784]