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

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