Cat (Felis catus) — Leber congenital amaurosis (hereditary; OMIA-verified species predisposition)

Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

Species: Cat (Felis catus)
Disorder: Leber congenital amaurosis
Mode of inheritance: Rah et al. (2005) characterised an autosomal recessive form of this disorder in Persian cats, and established a breeding colony.
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(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

Gene: Entrez Gene ID 389719983 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
OMIA molecular-genetics note: Lyons et al. (2016): c.577C>T; a predicted p.Arg193* (omia.variant:1214)

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

2005. Early-onset, autosomal recessive, progressive retinal atrophy in Persian cats. Invest Ophthalmol Vis Sci — PubMed:PMID15851577 | DOI:10.1167/iovs.04-1019 — OMIA Phene_Article / Article
2006. Lack of genetic association among coat colors, progressive retinal atrophy and polycystic kidney disease in Persian cats. J Feline Med Surg — PubMed:PMID16777456 | DOI:10.1016/j.jfms.2006.04.002 — OMIA Phene_Article / Article
2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article
2014. Genome-wide association and linkage analyses localize a progressive retinal atrophy locus in Persian cats. Mamm Genome — PubMed:PMID24777202 | DOI:10.1007/s00335-014-9517-z — OMIA Phene_Article / Article
2016. Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7. BMC Genomics — PubMed:PMID27030474 | DOI:10.1186/s12864-016-2595-4 — OMIA Phene_Article / Article
2021. A domestic cat whole exome sequencing resource for trait discovery. Sci Rep — PubMed:PMID33785770 | DOI:10.1038/s41598-021-86200-7 — OMIA Phene_Article / Article
2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article
2024. Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci — PubMed:PMID39703406 | DOI:10.3389/fvets.2024.1497817 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

OMIM:204100 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
OMIM:180069 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
OMIM:613794 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
OMIM:618697 (type: trait) — OMIA Group_OMIM (via OMIA_ID)

Cat (Felis catus) — Leber congenital amaurosis (hereditary; OMIA-verified species predisposition)