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Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases
Anna Duarri1, Esther A R Nibbeling1, Michiel R Fokkens1
1Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Plos One
|March 11, 2015
Summary
Researchers identified novel mutations in the KCNC3 gene causing spinocerebellar ataxia type 13 (SCA13), a rare neurodegenerative disorder. This study estimates SCA13 prevalence in the Netherlands, aiding future diagnosis and research.
Area of Science:
- Neurogenetics
- Molecular Neurology
Background:
- Spinocerebellar ataxia type 13 (SCA13) is an inherited neurodegenerative disorder affecting the cerebellum.
- It is caused by mutations in the KCNC3 gene, which encodes a voltage-gated potassium channel.
Purpose of the Study:
- To identify novel pathogenic mutations in KCNC3 associated with SCA13.
- To determine the prevalence of SCA13 in the Netherlands.
Main Methods:
- Sequencing of the KCNC3 gene in 848 Dutch patients with cerebellar ataxia.
- Pathogenicity evaluation using co-segregation analysis, in silico prediction, and functional studies (biochemical and electrophysiological).
Main Results:
- Nineteen KCNC3 variants were identified, including potentially pathogenic missense mutations.
- Two novel missense variants altered Kv3.3 channel function, correlating with specific clinical symptoms.
- Previously known SCA13 mutations were also found.
- Estimated SCA13 prevalence in the Netherlands is 0.6%–1.3%.
Conclusions:
- At least one novel pathogenic KCNC3 mutation causing SCA13 was identified.
- Two additional potential SCA13 mutations were found.
- The study provides crucial insights into SCA13 genetics and epidemiology.
