In other species: cattle

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 605809 , 616324 , 608931

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

Molecular basis: By sequencing two positional functional candidate genes, Rinz et al. (2015) concluded that a likely causal mutation in Jack Russell Terriers is "a single base insertion [c.633_634insC] in exon 7 of CHRNE that predicts a frameshift mutation and a premature stop codon [p.Gly212Argfs*274]".

Herder et al. (2017) investigated a litter of Heideterriers (a "nascent" breed not recognized by the FCI), in which 4 out of 11 puppies showed pronounced muscle weakness. Only one of these puppies was available for genetic analysis. Herder et al. (2017) performed whole genome sequencing and identified a homozygous single nucleotide insertion into the coding sequence of the CHRNE gene (XM_014113502.1:c.1436_1437insG). The insertion was predicted to lead to a frameshift and premature stop codon (XP_013968977.1:p.Ser479ArgfsTer14). This variant was absent from the genomes of 274 control dogs. Based on the earlier findings in Jack Russell Terriers and other species, Herder et al. (2017) concluded that "it is plausible that the CHRNE variant may have caused a myasthenia gravis-like disease in the investigated puppy."

Breeds: Heideterrier, Jack Russell Terrier.

Associated gene: