| Literature DB >> 25001314 |
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.Entities:
Keywords: 22q11.2 deletion; Early-onset; Genetic; PD; Parkinson's disease; Recessive
Mesh:
Year: 2014 PMID: 25001314 PMCID: PMC4143462 DOI: 10.1016/j.parkreldis.2014.06.020
Source DB: PubMed Journal: Parkinsonism Relat Disord ISSN: 1353-8020 Impact factor: 4.891