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

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611623

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_006609.3 (37460545..37472512) NECAP1 Homologene, Ensembl, NCBI gene

Variants

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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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Giant Schnauzer Progressive retinal atrophy, NECAP1-related NECAP1 missense CanFam3.1 27 g.37,468,611G>A c.544G>A p.(Gly182Arg) 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 <i>NECAP1</i> as a Novel Candidate Gene for Retinal Degeneration. Genes (Basel) 10:, 2019. Pubmed reference: 31117272. DOI: 10.3390/genes10050385.

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  • Created by Frank Nicholas on 25 May 2019