ArticleAnimal genetics2015
COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy.
Article in Animal genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- Pharmacological Treatments for Congenital Myasthenic Syndromes Caused byCurrent neuropharmacology · 2023Pooled it
- First genome-wide association study investigating blood pressure and renal traits in domestic cats.Scientific reports · 2022Pooled it
- Diagnosing myasthenia gravis versus congenital myasthenia gravis in British Shorthair cats: A case study.Journal of biological methods · 2025Article
- Life tables of annual life expectancy and risk factors for mortality in cats in the UK.Journal of feline medicine and surgery · 2024Article
- Article
- X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat.Journal of veterinary internal medicine · 2022Article
- Complex Feline Disease Mapping Using a Dense Genotyping Array.Frontiers in veterinary science · 2022Article
- More Than a Moggy; A Population Genetics Analysis of the United Kingdom's Non-Pedigree Cats.Genes · 2021Article
- Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits.Scientific reports · 2021Article
- Classification of myasthenia gravis and congenital myasthenic syndromes in dogs and cats.Journal of veterinary internal medicine · 2020Review
- Quality of DNA extracted from formalin-fixed, paraffin-embedded canine tissues.Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc · 2020Article
- A Deletion inGenes · 2020Article
- Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation.Journal of veterinary internal medicine · 2020Article
- Precision medicine validation: identifying theJournal of feline medicine and surgery · 2019Article
- Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome bJournal of veterinary internal medicine · 2019Article
- First genome-wide CNV mapping in FELIS CATUS using next generation sequencing data.BMC genomics · 2018Article
- Applications and efficiencies of the first cat 63K DNA array.Scientific reports · 2018Article
- Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes).Scientific reports · 2017Article
- Precision Medicine in Cats: Novel Niemann-Pick Type C1 Diagnosed by Whole-Genome Sequencing.Journal of veterinary internal medicine · 2017Article
- Congenital Malformations in River Buffalo (Bubalus bubalis).Animals : an open access journal from MDPI · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 7 institutions in 4 countries.
Funding
Abstract
Some Devon Rex and Sphynx cats have a variably progressive myopathy characterized by appendicular and axial muscle weakness, megaesophagus, pharyngeal weakness and fatigability with exercise. Muscle biopsies from affected cats demonstrated variable pathological changes ranging from dystrophic features to minimal abnormalities. Affected cats have exacerbation of weakness following anticholinesterase dosing, a clue that there is an underlying congenital myasthenic syndrome (CMS). A genome-wide association study and whole-genome sequencing suggested a causal variant for this entity was a c.1190G>A variant causing a cysteine to tyrosine substitution (p.Cys397Tyr) within the C-terminal domain of collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ). Alpha-dystroglycan expression, which is associated with COLQ anchorage at the motor end-plate, has been shown to be deficient in affected cats. Eighteen affected cats were identified by genotyping, including cats from the original clinical descriptions in 1993 and subsequent publications. 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. Characteristic clinical features and variant presence in all affected cats suggest a model for COLQ CMS. The association between the COLQ variant and this CMS affords clinicians the opportunity to confirm diagnosis via genetic testing and permits owners and breeders to identify carriers in the population. Moreover, accurate diagnosis increases available therapeutic options for affected cats based on an understanding of the pathophysiology and experience from human CMS associated with COLQ variants.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.