title: Chromosome 22q11.2 deletion may contain a locus for recessive early-onset Parkinson's disease.
abstract: Recently, it has been reported that carriers of a hemizygous chromosome 22q11.2 deletion may be at increased risk of early-onset Parkinson's disease. Herein, we propose a hypothesis that it is not the microdeletion per se that is responsible for the phenotype but rather a complete loss of function of a gene within the region due to the combination of the deletion and another mutation on the alternate allele. Thus we propose the deletion may be highlighting a novel locus for a recessive form of early-onset Parkinson's disease.
authors.affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Kotaro
authors.initials: K
authors.lastname: Ogaki
authors.affiliation: Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Mayo Graduate School, Neurobiology of Disease, Mayo Clinic, Jacksonville, FL, USA. Electronic address: ross.owen@mayo.edu.
authors.forename: Owen A
authors.initials: OA
authors.lastname: Ross
mesh_terms: D017668:Age of Onset; D000818:Animals; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
keywords: 22q11.2 deletion; Early-onset; Genetic; PD; Parkinson's disease; Recessive