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Review
. 2014 Sep;20(9):945-6.
doi: 10.1016/j.parkreldis.2014.06.020. Epub 2014 Jun 27.

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

Kotaro Ogaki  1 , Owen A Ross  2
Affiliations
Review

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

Kotaro Ogaki et al. Parkinsonism Relat Disord. 2014 Sep.

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.

Keywords: 22q11.2 deletion; Early-onset; Genetic; PD; Parkinson's disease; Recessive.

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Conflict of interest statement

The authors declare no financial or other conflict of interests.

Comment on

References

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