title: Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.
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.
authors.affiliation: Department of Biomedical Genetics, University Medical Center Utrecht, Stratenum, The Netherlands. D.S.verbeek@med.uu.nl
authors.forename: Dineke S
authors.initials: DS
authors.lastname: Verbeek
authors.forename: Bart P C van de
authors.initials: BP
authors.lastname: Warrenburg
authors.forename: F A M
authors.initials: FA
authors.lastname: Hennekam
authors.forename: Dennis
authors.initials: D
authors.lastname: Dooijes
authors.forename: P F
authors.initials: PF
authors.lastname: Ippel
authors.forename: Corien C
authors.initials: CC
authors.lastname: Verschuuren-Bemelmans
authors.forename: H P H
authors.initials: HP
authors.lastname: Kremer
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Sinke
mesh_terms: D000368:Aged; D015331:Cohort Studies; D005260:Female; D018703:Founder Effect; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009426:Netherlands / Q000453:epidemiology; D010375:Pedigree; D011493:Protein Kinase C / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000453:epidemiology / Q000235:genetics*; D000099293:Protein Kinase C-lambda
chemical_list: D007527:Isoenzymes; D011493:Protein Kinase C; D000099293:Protein Kinase C-lambda