OMIA 001222-9685 : Leber congenital amaurosis in Felis catus

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 204100

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2016

Cross-species summary: This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2012). It is also known as retinal pigment epithelial dystrophy.

Inheritance: Rah et al. (2005) characterised an autosomal recessive form of this disorder in Persian cats, and established a breeding colony.

Mapping: To map this disorder, Alhaddad et al. (2014) genotyped each of 106 animals (comprising 37 affecteds and 69 controls) from a colony of Persian cats segregating the disorder (established by Rah et al., 2005) with the illumina Infinium Feline 63 K iSelect DNA array, yielding 47,907 informative SNPs. Using these data, they then conducted a genome-wide linkage analysis, and three GWAS, namely a transmission disequilibrium test (TDT) on 33 discordant trios, a TDT among sib-pairs on 33 discordant sibs, and a case-control association analysis on all 106 animals. All four analyses highlighted an ~ 1.75 Mb region on chromosome FCA E1. Haplotype analysis reduced this region to ~1.3 Mb. The authors noted that this region contains several potential comparative positional and functional candidate genes.

Molecular basis: Lyons et al. (2016): c.577C>T; a predicted p.Arg193*

Prevalence: As reported by Lyons et al. (2016): "Over 1700 cats from 40 different breeds and populations were genotyped for the AIPL1 variant, defining an allelic frequency in only Persian -related breeds of 1.15 %".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 Felis catus E1 NC_018736.3 (932648..961674) AIPL1 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.

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
Persian Leber congenital amaurosis AIPL1 nonsense (stop-gain) Felis catus 6.2 c.577C>T p.(Arg193*) 2016 27030474

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2016 Lyons, L.A., Creighton, E.K., Alhaddad, H., Beale, H.C., Grahn, R.A., Rah, H., Maggs, D.J., Helps, C.R., Gandolfi, B. :
Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7. BMC Genomics 17:265, 2016. Pubmed reference: 27030474. DOI: 10.1186/s12864-016-2595-4.
2014 Alhaddad, H., Gandolfi, B., Grahn, R.A., Rah, H.C., Peterson, C.B., Maggs, D.J., Good, K.L., Pedersen, N.C., Lyons, L.A. :
Genome-wide association and linkage analyses localize a progressive retinal atrophy locus in Persian cats. Mamm Genome 25:354-62, 2014. Pubmed reference: 24777202. DOI: 10.1007/s00335-014-9517-z.
2012 Miyadera, K., Acland, G.M., Aguirre, G.D. :
Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3.
2006 Rah, H., Maggs, DJ., Lyons, LA. :
Lack of genetic association among coat colors, progressive retinal atrophy and polycystic kidney disease in Persian cats. J Feline Med Surg 8:357-60, 2006. Pubmed reference: 16777456. DOI: 10.1016/j.jfms.2006.04.002.
2005 Rah, H., Maggs, DJ., Blankenship, TN., Narfstrom, K., Lyons, LA. :
Early-onset, autosomal recessive, progressive retinal atrophy in Persian cats. Invest Ophthalmol Vis Sci 46:1742-7, 2005. Pubmed reference: 15851577. DOI: 10.1167/iovs.04-1019.

Edit History


  • Created by Frank Nicholas on 02 Apr 2016
  • Changed by Frank Nicholas on 02 Apr 2016