Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population

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• 作者：Dineke S. Verbeek ; Bart P. C. van de Warrenburg ; F. A. M. Hennekam ; Dennis Dooijes ; P. F. Ippel ; Corien C. Verschuuren-Bemelmans ; H. P. H. Kremer and Richard J. Sinke
• 刊名：Human Genetics
• 出版年：2005
• 出版时间：June 2005
• 年：2005
• 卷：117
• 期：1
• 页码：88-91
• 全文大小：213 KB
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Human Genetics
  Molecular Medicine
  Internal Medicine
  Metabolic Diseases
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-1203

文摘

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.