Literature DB >> 25001314

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

Kotaro Ogaki1, Owen A Ross2.   

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.
Copyright © 2014 Elsevier Ltd. All rights reserved.

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


  10 in total

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