Ligneous Membranitis

Gene : PLG

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.

Mutations :

Scottish Terrier mutation: Substitution (spliciing error), PLG gene; c.1256+2 T>A

Maltese Terrier mutation: Deletion, PLG gene; c.-5645 del. 4985 bp

Medical system: Ocular

Breeds : Maltese Terrier, Scottish Terrier

References :

OMIA link: [2020-9615]

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]

Genetics Committee of the American College of Veterinary Ophthalmologists. (2021) The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition.  [https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf]

Turba ME, Ostan PC, Ghetti S, et al. (2021) A large deletion in the plasminogen gene is associated with ligneous membranitis in a Maltese dog. Anim Genet 52:767-71. [pubmed/34370320]

Ainsworth S, Carter S, Fisher C, et al. (2015) Ligneous membranitis in Scottish Terriers is associated with a single nucleotide polymorphism in the plasminogen (PLG) gene. Anim Genet 46:707-10.  [pubmed/26360520]