Mutation of the Parkin gene in a Persian family: clinical progression over a 40-year period.
We report on an Israeli family originating from Iran in which 4 of 7 brothers born from a consanguineous marriage had juvenile Parkinsonism. Linkage analysis of markers covering the autosomal recessive juvenile Parkinsonism (AR-JP, PARK2, Parkin gene, OMIM #602544) gene resulted in a maximal logarithm of odds score of 2.18. A homozygous deletion that expanded from exon 4 to exon 6 was identified in all the patients. Significant clinical heterogeneity was present between siblings.
Clarimon
Jordi
J
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA. clarimon@mail.nih.gov
Johnson
Janel
J
Djaldetti
Ruth
R
Hernandez
Dena
D
Hattori
Nobutaka
N
Sroka
Hava
H
Barhom
Yael
Y
Singleton
Andrew
A
D000368:Aged; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005260:Female; D006801:Humans; D007492:Iran; D008297:Male; D009154:Mutation; D016017:Odds Ratio; D020734:Parkinsonian Disorders / Q000235:genetics*; D010375:Pedigree; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D035781:Siblings; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D012333:RNA, Messenger; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein