OMIA:000698-89462 : Myotonia in Bubalus bubalis
In other species: goat , dog , sheep , domestic cat , horse , cattle , pig
Categories: Muscle phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 160800 (trait) , 255700 (trait) , 118425 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2013
Cross-species summary: Myotonia congenita
History: This disorder was first recorded in water buffalo by Borges et al. (2013), who reported on "Eleven clinically affected Murrah buffalo of both sexes (7 females and 4 males) ranging in age from 1 day to 8 years obtained from herds in the states of São Paulo and Pará in Brazil".
Molecular basis: By cloning and sequencing the most likely comparative candidate gene (namely CLCN1, based on similarity of clinical signs across species), Borges et al. (2013) showed that this disorder in Murrah buffalo is due to a SNP in exon 3 (c.396C>T) which creates a "splice donor site located at nucleotides 90–91 of exon-3. The predicted impact of this aberrant splicing event is the alteration of the CLCN1 translational reading frame, which results in the incorporation of 24 unrelated amino acids followed by a premature stop codon."
Clinical features: As described by Borges et al. (2013) "The affected animals exhibited muscle hypertrophy and stiffness. Myotonic discharges were observed during EMG, and dystrophic changes were not present in skeletal muscle biopsies".
Breed: Murrah (Buffalo) (VBO_0000076).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CLCN1||chloride channel, voltage-sensitive 1||Bubalus bubalis||8||NC_059164.1 (106262091..106301056)||CLCN1||Homologene, Ensembl , NCBI gene|
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|399||Myotonia||CLCN1||splicing||Naturally occurring variant||c.396C>T||2013||23339992|
|2013||Borges, A.S., Barbosa, J.D., Resende, L.A., Mota, L.S., Amorim, R.M., Carvalho, T.L., Garcia, J.F., Oliveira-Filho, J.P., Oliveira, C.M., Souza, J.E., Winand, N.J. :|
|Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo. Neuromuscul Disord 23:206-13, 2013. Pubmed reference: 23339992 . DOI: 10.1016/j.nmd.2012.11.008.|
- Changed by Frank Nicholas on 17 Aug 2013
- Created by Frank Nicholas on 17 Aug 2013