Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
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.

PubMed Disclaimer

Conflict of interest statement

The authors declare no financial or other conflict of interests.

Comment on

Similar articles

See all similar articles

Cited by

References

    1. Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159:332–9. e1. - PMC - PubMed
    1. Butcher NJ, Kiehl TR, Hazrati LN, Chow EW, Rogaeva E, Lang AE, et al. Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications. JAMA Neurol. 2013;70:1359–66. - PMC - PubMed
    1. Krahn LE, Maraganore DM, Michels VV. Childhood-onset schizophrenia associated with parkinsonism in a patient with a microdeletion of chromosome 22. Mayo Clin Proc. 1998;73:956–9. - PubMed
    1. Zaleski C, Bassett AS, Tam K, Shugar AL, Chow EW, McPherson E. The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome. Am J Med Genet A. 2009;149A:525–8. - PMC - PubMed
    1. Booij J, van Amelsvoort T, Boot E. Co-occurrence of early-onset Parkinson disease and 22q11.2 deletion syndrome: Potential role for dopamine transporter imaging. Am J Med Genet A. 2010;152A:2937–8. - PubMed

Publication types