OMIA 000698-9685 : Myotonia in Felis catus

In other species: goat , dog , sheep , horse , cattle , water buffalo

Possibly relevant human trait(s) and/or gene(s) (MIM number): 160800

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2014

Molecular basis: Using the candidate gene approach, Gandolphi et al. (2014) identified a likely causal mutation as a "c.1930+1G>T transversion [that] altered the 5′ splice site at the junction of exon 16 and intron 16" of CLCN1, These same authors also reported that "In silico translation of the altered transcript predicts the lack of 116 amino acids, from residues 557 to residue 643 of the protein . . . . The predicted premature CLCN1 protein truncation would cause the partial absence of the first highly conserved CBS1 (cystathionine β-synthase) domain and the third dimerization domain p.578Y".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CLCN1 chloride channel, voltage-sensitive 1 Felis catus A2 NC_018724.3 (158963698..158995074) CLCN1 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Myotonia CLCN1 splicing Felis_catus_6.2 A2 g.157306905G>T c.1930+1G>T 2014 25356766 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2014 Gandolfi, B., Daniel, R.J., O'Brien, D.P., Guo, L.T., Youngs, M.D., Leach, S.B., Jones, B.R., Shelton, G.D., Lyons, L.A. :
A novel mutation in CLCN1 associated with feline myotonia congenita. PLoS One 9:e109926, 2014. Pubmed reference: 25356766. DOI: 10.1371/journal.pone.0109926.
2004 Gaschen, F., Jaggy, A., Jones, B. :
Congenital diseases of feline muscle and neuromuscular junction. J Feline Med Surg 6:355-66, 2004. Pubmed reference: 15546767. DOI: 10.1016/j.jfms.2004.02.003.
1998 Hickford, F.H., Jones, B.R., Gething, M.A., Pack, R., Alley, M.R. :
Congenital myotonia in related kittens Journal of Small Animal Practice 39:281-285, 1998. Pubmed reference: 9673904.
Toll, J., Cooper, B. :
Feline congenital myotonia Journal of Small Animal Practice 39:499, 1998. Pubmed reference: 9816575.
Toll, J., Cooper, B., Altschul, M. :
Congenital myotonia in 2 domestic cats Journal of Veterinary Internal Medicine 12:116-119, 1998. Pubmed reference: 9560769.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 31 Dec 2015