A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome

PloS One
Marie AbitbolLaurent Tiret

Abstract

An autosomal recessive neuromuscular disorder characterized by skeletal muscle weakness, fatigability and variable electromyographic or muscular histopathological features has been described in the two related Sphynx and Devon Rex cat breeds (Felis catus). Collection of data from two affected Sphynx cats and their relatives pointed out a single disease candidate region on feline chromosome C2, identified following a genome-wide SNP-based homozygosity mapping strategy. In that region, we further identified COLQ (collagen-like tail subunit of asymmetric acetylcholinesterase) as a good candidate gene, since COLQ mutations were identified in affected humans and dogs with endplate acetylcholinesterase deficiency leading to a synaptic form of congenital myasthenic syndrome (CMS). A homozygous c.1190G>A missense variant located in exon 15 of COLQ, leading to a C397Y substitution, was identified in the two affected cats. C397 is a highly-conserved residue from the C-terminal domain of the protein; its mutation was previously shown to produce CMS in humans, and here we confirmed in an affected Sphynx cat that it induces a loss of acetylcholinesterase clustering at the neuromuscular junction. Segregation of the c.1190G>A variant was 100%...Continue Reading

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Jul 16, 2020·Journal of Veterinary Internal Medicine·Thomas MignanMark Lowrie
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Apr 10, 2018·Journal of Integrative Neuroscience·Qing-Lin ZhangXiao-Chun Zheng

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Datasets Mentioned

BETA
KT223392
KT223393
KR049220
KR049221

Methods Mentioned

BETA
biopsies
PCR
genotyping

Software Mentioned

SNAP
PROVEAN
Excel
PolyPhen
Ensembl
Primer3

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