Abstract
Missense mutations in the PRKCG gene have recently been identified in spinocerebellar ataxia 14 (SCA14) patients; these include the Gly118Asp mutation that we found in a large Dutch autosomal dominant cerebellar ataxia (ADCA) family. We subsequently screened the current Dutch ataxia cohort (approximately 900 individuals) for SCA14 mutations in the Cys2 region of the PRKCG gene. We identified the Gly118Asp mutation in another eight individuals from five small families. Haplotype analysis identified a shared chromosomal region surrounding the SCA14 gene, and genealogical research was able to link all these ADCA patients to a single common ancestor. We therefore confirmed that the Gly118Asp mutation is a SCA14 founder mutation in the Dutch ADCA population.
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Acknowledgements
We would like to thank the Dutch ataxia study group (SCAN) working group for providing the opportunity to study the entire ataxia population in the Netherlands, Jackie Senior for carefully reading the manuscript, and Eveline van Tuinen for her assistance with the sequence analysis. This work was supported by grant MAR00-107 from the Prinses Beatrix Fonds, the Netherlands, and a research grant (97252) from the University Medical Center Nijmegen, The Netherlands.
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Verbeek, D.S., Warrenburg, B.P.C.v.d., Hennekam, F.A.M. et al. Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. Hum Genet 117, 88–91 (2005). https://doi.org/10.1007/s00439-005-1278-z
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DOI: https://doi.org/10.1007/s00439-005-1278-z