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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.

SUBMITTER: Ogaki K

PROVIDER: S-EPMC4143462 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature

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Chromosome 22q11.2 deletion may contain a locus for recessive early-onset Parkinson's disease.

Ogaki Kotaro K Ross Owen A OA

Parkinsonism & related disorders 20140627 9

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 e ...[more]

PMID: 25001314

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