The contactin 4 gene locus at 3p26 is a candidate gene of SCA16
- 10 October 2006
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 67 (7) , 1236-1241
- https://doi.org/10.1212/01.wnl.0000238510.84932.82
Abstract
Objective: To identify of the gene responsible for the onset of spinocerebellar ataxia type 16 (SCA16). Methods: We reanalyzed the linkage of the original Japanese pedigree using updated information, including three additional subjects. We then screened all exons located in the critical region. Results: We reassigned the locus of SCA16 to 3p26.2-pter (maximum logarithm-of-odds score = 5.177) and identified only one point mutation (4,256C→T) in the 3′ untranslated region of the contactin 4 gene (CNTN4) on chromosome 3p26.2-26.3, which cosegregated with the disease. This mutation was not detected in 520 control subjects; moreover, we revised the phenotype of SCA16 from pure to complicated SCA. Conclusion: The contactin 4 gene (CNTN4) is associated with cerebellar degeneration in spinocerebellar ataxia type 16. Additional studies are necessary to prove 4,256C→T to be a causative mutation.Keywords
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