A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.
Abstract: A 7-month-old New Forest foal presented for episodes of recumbency and stiffness with myotonic discharges on electromyography. The observed phenotype resembled congenital myotonia caused by CLCN1 mutations in goats and humans. Mutation of the CLCN1 gene was considered as possible cause and mutation analysis was performed. The affected foal was homozygous for a missense mutation (c.1775A>C, p.D592A) located in a well conserved domain of the CLCN1 gene. The mutation showed a recessive mode of inheritance within the reported pony family. Therefore, this CLCN1 polymorphism is considered to be a possible cause of congenital myotonia.
Copyright © 2011 Elsevier B.V. All rights reserved.
Publication Date: 2011-12-23 PubMed ID: 22197188DOI: 10.1016/j.nmd.2011.10.001Google Scholar: Lookup
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Summary
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This study focuses on a particular mutation in the gene CLCN1, which codes for a chloride channel in skeletal muscle. The research team found that this mutation could be the cause of a neuromuscular disorder known as congenital myotonia in a New Forest pony.
The Study
- The research began with the examination of a 7-month-old New Forest pony foal that had been presenting symptoms of stiffness and episodes of recumbency.
- These symptoms were similar to those of congenital myotonia, a muscle disorder caused by dysfunction in the chloride channels.
Link to Congenital Myotonia
- The researchers observed that the phenotype of the affected foal resembled congenital myotonia which is known to be caused by mutations in the CLCN1 gene in goats and humans.
- Given these similarities, the team hypothesized that a CLCN1 mutation might also be the cause of the observed muscle disorder in the New Forest pony.
Mutation in CLCN1
- When genetic analysis was carried out, it was found that the affected foal was homozygous for a missense mutation (c.1775A>C, p.D592A) in the CLCN1 gene. This means the foal inherited the same mutated gene from both its parents.
- This mutation was found in a highly conserved domain of the CLCN1 gene, indicating a region vital for the gene’s function.
Conclusion
- Therefore, based on the presentation of the foal and mutation analysis of the CLCN1 gene, the team concluded that this mutation most likely caused the observed symptoms of congenital myotonia in the foal.
- The team also suggested that the mutation showed a recessive mode of inheritance within the pony’s family.
Cite This Article
APA
Wijnberg ID, Owczarek-Lipska M, Sacchetto R, Mascarello F, Pascoli F, Grünberg W, van der Kolk JH, Drögemüller C.
(2011).
A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.
Neuromuscul Disord, 22(4), 361-367.
https://doi.org/10.1016/j.nmd.2011.10.001 Publication
Researcher Affiliations
- Department of Equine Sciences, Faculty of Veterinary Medicine, Utrecht University, Utrecht, The Netherlands. I.D.Wijnberg@uu.nl
MeSH Terms
- Animals
- Chloride Channels / genetics
- DNA Mutational Analysis
- Horse Diseases / diagnosis
- Horse Diseases / genetics
- Horses
- Muscle, Skeletal / physiopathology
- Mutation, Missense / genetics
- Myotonia Congenita / diagnosis
- Myotonia Congenita / genetics
- Myotonia Congenita / veterinary
- Pedigree
- Phenotype
- Polymorphism, Genetic
Citations
This article has been cited 6 times.- Chimenes ND, Caramalac SM, Caramalac SM, Fernandes TD, Basso RM, Cerri FM, Oliveira-Filho JP, Borges AS, Palumbo MIP. A complex CLCN1 variant associated with hereditary myotonia in a mixed-breed dog.. J Vet Diagn Invest 2023 Jul;35(4):413-416.
- Woelfel C, Meurs K, Friedenberg S, DeBruyne N, Olby NJ. A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment.. J Vet Intern Med 2022 Jul;36(4):1454-1459.
- Jacinto JGP, Häfliger IM, Akyürek EE, Sacchetto R, Benazzi C, Gentile A, Drögemüller C. KCNG1-Related Syndromic Form of Congenital Neuromuscular Channelopathy in a Crossbred Calf.. Genes (Basel) 2021 Nov 12;12(11).
- Araújo CET, Oliveira CMC, Barbosa JD, Oliveira-Filho JP, Resende LAL, Badial PR, Araujo-Junior JP, McCue ME, Borges AS. A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs.. Sci Rep 2019 Oct 30;9(1):15632.
- Imbrici P, Altamura C, Pessia M, Mantegazza R, Desaphy JF, Camerino DC. ClC-1 chloride channels: state-of-the-art research and future challenges.. Front Cell Neurosci 2015;9:156.
- Gandolfi B, Daniel RJ, O'Brien DP, Guo LT, Youngs MD, Leach SB, Jones BR, Shelton GD, Lyons LA. A novel mutation in CLCN1 associated with feline myotonia congenita.. PLoS One 2014;9(10):e109926.
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