Communicated by Christine Van Broeckhoven
Article first published online: 26 OCT 2006
This article is a US Government work, and, as such, is in the public domain in the United States of America. Published in 2006 by Wiley-Liss, Inc.
Volume 28, Issue 1, pages 27–32, January 2007
How to Cite
Lesage, S., Magali, P., Lohmann, E., Lacomblez, L., Teive, H., Janin, S., Cousin, P.-Y., Dürr, A. and Brice, A. (2007), Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism. Hum. Mutat., 28: 27–32. doi: 10.1002/humu.20436
This article is a US Government work, and, as such, is in the public domain in the United States of America.
Members of the French Parkinson Disease Genetics Study Group: Y. Agid, A.-M. Bonnet, M. Borg, A. Brice, E. Broussolle, Ph. Damier, A. Destée, A. Dürr, F. Durif, E. Lohmann, M. Martinez, C. Penet, P. Pollak, O. Rascol, F. Tison, C. Tranchant, M. Vérin, F. Viallet, and M. Vidailhet.
- Issue published online: 7 DEC 2006
- Article first published online: 26 OCT 2006
- Manuscript Accepted: 15 SEP 2006
- Manuscript Received: 7 JUL 2006
- Association France-Parkinson
- Cohortes et Collections 2001 INSERM/French Ministry of Research and Technology. Grant Number: 4CH03G
- European Commission. Grant Number: EU LSHM-CT-2003-503330/APOPIS
- National Institutes of Health. Grant Number: NS41723-01A1
- Parkinson disease;
- EOPD, early-onset parkinsonism;
- parkin, PARK2;
- parkin coregulated gene, PACRG;
Autosomal recessive mutations in the parkin gene (PARK2) have been identified as a common cause of familial and also sporadic, early-onset parkinsonism (EOPD): point mutations, exonic deletions, and duplications or triplications have been described. Here we report a novel mutation, consisting of a deletion of the promoter and exon 1 of parkin (c.1–?_7+?del), in a family compatible with autosomal recessive EOPD and an isolated case. The former was compound heterozygous for the parkin c.1–?_7+?del mutation and an exon 3 deletion (c.172–?_412+?del). The latter was homozygous for the parkin c.1–?_7+?del mutation. The promoter region is shared by parkin and the neighboring parkin coregulated gene (PACRG), which are oriented head-to-head and are transcribed on opposite DNA strands. There were no parkin transcripts in lymphoblasts from the patients carrying the parkin c.1–?_7+?del mutation. The phenotypes of patients with promoter deletions and consequently absence of parkin and possibly PACRG expression, were similar to and no more severe than those of other EOPD patients with parkin mutations. Hum Mutat 28(1), 27–32, 2007. Published 2006 Wiley-Liss, Inc.