Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism.
Autosomal recessive mutations in the parkin gene are the predominant cause of familial, early-onset parkinsonism; missense mutations involving one or a few nucleotides, exonic deletions and duplications have been described. Here we report a family with two affected brothers. Direct sequencing of parkin did not detect mutations, but semi-quantitative analysis identified a novel exonic rearrangement of exons 2-4. Both patients were homozygous for unique genomic triplications of the parkin gene.
Mata
Ignacio F
IF
Laboratory of Neurogenetics, Department of Neuroscience, Birdsall Bldg., Room 206, Mayo Clinic, Jacksonville, FL 32224, USA.
Alvarez
Victoria
V
Coto
Eliecer
E
Blazquez
Marta
M
Guisasola
Luis M
LM
Salvador
Carlos
C
Kachergus
Jennifer M
JM
Lincoln
Sarah J
SJ
Farrer
Matthew
M
D017668:Age of Onset; D000368:Aged; D001923:Brain Chemistry / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D016678:Genome; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein