OMIA 002198-9615 : Progressive retinal atrophy, NECAP1-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 611623 (gene) , 615833 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

Molecular basis: "Whole genome sequencing of two PRA-affected full-siblings and both unaffected parents" followed by variant "filtering against 568 canine genomes" enabled Hitti et al. (2019) to identify "a single nucleotide variant in the gene encoding NECAP endocytosis associated 1 (NECAP1): c.544G>A (p.Gly182Arg)" as the likely causal variant of this disorder in "Giant Schnauzer (GS) littermates [that] presented with PRA around four years of age".

Prevalence: Hitti et al. (2019): "Five thousand one hundred and thirty canids of 175 breeds, 10 cross-breeds and 3 wolves were genotyped for c.544G>A. Only the three PRA-affected GS were homozygous (allele frequency in GS, excluding proband family = 0.015). In addition, we identified heterozygotes belonging to Spitz and Dachshund varieties, demonstrating c.544G>A segregates in other breeds of German origin. "

Breed: Giant Schnauzer.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
NECAP1 NECAP endocytosis associated 1 Canis lupus familiaris 27 NC_051831.1 (37814521..37826493) NECAP1 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1083 Giant Schnauzer Progressive retinal atrophy, NECAP1-related NECAP1 missense Naturally occurring variant CanFam3.1 27 g.37468611G>A c.544G>A p.(G182R) 2019 31117272

Reference


2019 Hitti, R.J., Oliver, J.A.C., Schofield, E.C., Bauer, A., Kaukonen, M., Forman, O.P., Leeb, T., Lohi, H., Burmeister, L.M., Sargan, D., Mellersh, C.S. :
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, 2019. Pubmed reference: 31117272. DOI: 10.3390/genes10050385.

Edit History


  • Created by Frank Nicholas on 25 May 2019