Retinal atrophy, progressive (NECAP1 related)

Gene: NECAP1

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: Substitution, NECAP1 gene; c.544 G>A, p.(G182R)

Medical system: Ocular

Breeds: American Staffordshire Terrier/Amstaff, Beagle, Chihuahua, Dachshund Miniature Longhair/Shorthair, Dachshund Miniature Wirehair, Dachshund Standard Longhair/Shorthair, Dachshund Standard Wirehair, Korean Jindo, Maltese Terrier, Miniature American Shepherd, Miniature Pinscher, Pomeranian, Poodle - Miniature (Dwarf), Pug, Schnauzer - Giant, Schnauzer - Miniature, Shih Tzu, Siberian Laika, Yorkshire Terrier

References:

OMIA link: [2198-9615]

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]

Hitti RJ, Oliver JAC, Schofield, EC, et al. (2019) Whole genome sequencing of Giant Schnauzer dogs with progressive retinal atrophy establishes NECAP1 as a novel candidate gene for retinal degeneration. Genes (Basel) 10:385.  [pubmed/31117272]