EIF4G1 R1205H and VPS35 D620N mutations are rare in Parkinson's disease from South Africa.
The R1205H mutation in the eukaryotic translation initiation factor 4G1 (EIF4G1) gene and the D620N mutation in the vacuolar protein sorting 35 (VPS35) gene were recently found in patients with autosomal dominant or sporadic forms of Parkinson's disease (PD). In the present study, 418 South African PD patients and 528 control subjects of diverse ethnicities were screened using the KASP (Kompetitive Allele Specific PCR) genotyping assay. The mutations were not found in our study, suggesting that they are not a common cause of PD in South African patients. Further studies are needed on the frequency of these 2 mutations in other sub-Saharan African populations.
Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa. Electronic address: jblanckenberg@sun.ac.za.
Janine
J
Blanckenberg
Claudia
C
Ntsapi
Jonathan A
JA
Carr
Soraya
S
Bardien
D004198:Disease Susceptibility; D039603:Eukaryotic Initiation Factor-4G / Q000235:genetics*; D060005:Genotyping Techniques; D006801:Humans; D009154:Mutation / Q000235:genetics*; D059645:Mutation Rate; D020734:Parkinsonian Disorders / Q000208:ethnology* / Q000235:genetics*; D013019:South Africa / Q000208:ethnology; D033921:Vesicular Transport Proteins / Q000235:genetics*
C113920:EIF4G1 protein, human; D039603:Eukaryotic Initiation Factor-4G; C419573:VPS35 protein, human; D033921:Vesicular Transport Proteins
D620N mutation; EIF4G1 gene; Parkinson's disease; R1205H mutation; South Africa; VPS35 gene