OMIA 000698-89462 : Myotonia in Bubalus bubalis

In other species: dog , domestic cat , horse , cattle , goat , sheep

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

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2013

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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CLCN1 chloride channel, voltage-sensitive 1 Bubalus bubalis 8 NC_037552.1 (106757987..106795707) CLCN1 Homologene, Ensembl, NCBI gene

Variants

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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 c.396C>T 2013 23339992

Reference


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.

Edit History


  • Created by Frank Nicholas on 17 Aug 2013
  • Changed by Frank Nicholas on 17 Aug 2013