Cat (Felis catus) — Muscular dystrophy-dystroglycanopathy (limb-girdle) (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: Muscular dystrophy-dystroglycanopathy (limb-girdle)Mode of inheritance: Robinson (1992) provided evidence of autosomal recessive inheritance.Prevalence: Abitol et al. (2015): "Genotyping of a panel of 333 cats from 14 breeds failed to identify a single carrier in non-Sphynx and non-Devon Rex cats. Finally, the percentage of healthy carriers in a European subpanel of 81 genotyped Sphynx cats was estimated to be low (3.7%) and 14 control Devon Rex cats were genotyped as wild-type individuals." Gandolfi et al. (2015): "Eight Devon Rex and one Sphynx not associated with the study were identified as carriers, suggesting an allele frequency of ~2.0% in Devon Rex. Over 350 tested cats from other breeds did not have the variant."
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 389722932 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Martin et al. (2008) reported a deficiency of alpha-dystroglycan in affected cats but could find no causative mutation in the DAG1 gene that encodes this peptide. Abitbol et al. (2015) conducted "a genome-wide SNP-based homozygosity mapping strategy" on "two affected Sphynx cats and their relatives", and identified "A homozygous c.1190G>A missense variant [omia.variant:944] located in exon 15 o…
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.
- 1992. Spasticity in the Devon Rex Cat. Vet Rec — PubMed:PMID1595149 | DOI:10.1136/vr.130.14.302-a — OMIA Phene_Article / Article
- 1993. Hereditary myopathy of Devon rex cats. Journal of Small Animal Practice — OMIA Phene_Article / Article
- 2005. Canine and feline models of human inherited muscle diseases. Neuromuscul Disord — PubMed:PMID15694134 | DOI:10.1016/j.nmd.2004.10.019 — OMIA Phene_Article / Article
- 2008. Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats. Neuromuscul Disord — PubMed:PMID18990577 | DOI:10.1016/j.nmd.2008.08.002 — OMIA Phene_Article / Article
- 1989. Episodic collapse and weakness in cats. Veterinary Annual — OMIA Phene_Article / Article
- 2007. Myopathy with tubulin-reactive inclusions in two cats. Acta Neuropathol — PubMed:PMID17393175 | DOI:10.1007/s00401-007-0217-6 — OMIA Phene_Article / Article
- 2015. A COLQ missense mutation in Sphynx and Devon rex cats with congenital myasthenic syndrome. PLoS One — PubMed:PMID26327126 | DOI:10.1371/journal.pone.0137019 — OMIA Phene_Article / Article
- 2015. COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy. Anim Genet — PubMed:PMID26374066 | DOI:10.1111/age.12350 — OMIA Phene_Article / Article
- 2022. Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats. PLoS Genet — PubMed:PMID35709088 | DOI:10.1371/journal.pgen.1009804 — 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:603034 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:603033 (type: gene) — OMIA Group_OMIM (via OMIA_ID)