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Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population
- Source :
- Human Genetics, 117, 88-91, Human Genetics, 117, 1, pp. 88-91, HUMAN GENETICS, 117(1), 88-91. SPRINGER
- Publication Year :
- 2005
-
Abstract
- Contains fulltext : 47801.pdf (Publisher’s version ) (Closed access) 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.
- Subjects :
- Male
Ataxia
Genotype
Population
Mutation, Missense
HAPLOTYPE
Biology
FAMILIES
Cohort Studies
Autosomal dominant cerebellar ataxia
DOMAIN
Cognitive neurosciences [UMCN 3.2]
Genetics
medicine
Perception and Action [DCN 1]
Humans
Spinocerebellar Ataxias
Missense mutation
KINASE-C-GAMMA
education
Protein Kinase C
Genetics (clinical)
CEREBELLAR-ATAXIA
Aged
Netherlands
education.field_of_study
Cerebellar ataxia
TYPE-14
Middle Aged
medicine.disease
PRKCG Gene
Founder Effect
Pedigree
Isoenzymes
Haplotypes
Chromosomal region
Spinocerebellar ataxia
Female
medicine.symptom
Functional Neurogenomics [DCN 2]
Subjects
Details
- ISSN :
- 03406717
- Volume :
- 117
- Database :
- OpenAIRE
- Journal :
- Human Genetics
- Accession number :
- edsair.doi.dedup.....6675b2e6b2d37ecd0e1e66d3ac637aee