In other species: chicken

Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 603034 (trait) , 603033 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2015

Inheritance: Robinson (1992) provided evidence of autosomal recessive inheritance.

Molecular basis: 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 located in exon 15 of COLQ, leading to a C397Y substitution" as a likely causal variant. A few months later, Gandolfi et al. (2015) reported the same likely causal variant: "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)".

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: