Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population
作者: Dineke S. VerbeekBart P. C. van de WarrenburgF. A. M. HennekamDennis DooijesP. F. IppelCorien C. Verschuuren-BemelmansH. P. H. KremerRichard J. Sinke
作者单位: 1Department of Biomedical Genetics, University Medical Center Utrecht
2Department of Neurology, University Medical Center Nijmegen
3Department of Clinical Genetics, Erasmus Medical Center
4Department of Clinical Genetics, Groningen University Hospital
刊名: Human Genetics, 2005, Vol.117 (1), pp.88-91
来源数据库: Springer Nature Journal
DOI: 10.1007/s00439-005-1278-z
英文摘要: Abstract(#br)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.
全文获取路径: Springer Nature  (合作)
影响因子:4.633 (2012)

  • ataxia 运动失调
  • mutation 变种
  • SCA Selectivity Clear Accummulator
  • population 母体
  • Dutch 荷兰的
  • founder 沉没
  • Asp 天冬氨酸