Alternative titles; symbols
ORPHA: 2828;
Cytogenetic location: Xq21-q25 Genomic coordinates (GRCh38) : X:76,800,001-129,500,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| Xq21-q25 | {Parkinson disease 12} | 300557 | 2 |
For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see 168600.
Pankratz et al. (2002) studied 160 multiplex families with Parkinson disease (PD) in which there was no evidence of mutation in the PARKIN gene (602544) and used multipoint nonparametric linkage analysis to identify PD susceptibility genes. For those individuals with a more stringent diagnosis of verified PD, a lod score of 2.1 was observed on the X chromosome. Analyses performed with all available sib pairs, i.e., all examined individuals treated as affected regardless of their final diagnostic classification, yielded even greater evidence of linkage to the X chromosome (lod score = 2.7).
Pankratz et al. (2003) studied 754 affected individuals, comprising 425 sib pairs, to identify PD susceptibility genes. They employed 2 diagnostic models for genomewide nonparametric linkage analysis. Under the model representing a broader disease definition, a lod score of 3.1 was achieved (genomewide p = 0.04). After removing from the sample those 85 families with a strong history of PD, the genome screen in the remaining 277 families resulted in a lod score of 3.2 on the X chromosome. Pankratz et al. (2003) noted that Hicks et al. (2002) and Scott et al. (2001) also reported linkage to this region of Xq21-q25.
Hicks, A. A., Petursson, H., Jonsson, T., Stefansson, H., Johannsdottir, H. S., Sainz, J., Frigge, M. L., Kong, A., Gulcher, J. R., Stefansson, K., Sveinbjornsdottir, S. A susceptibility gene for late-onset idiopathic Parkinson's disease. Ann. Neurol. 52: 549-555, 2002. [PubMed: 12402251] [Full Text: https://doi.org/10.1002/ana.10324]
Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Murrell, J., Rudolph, A., Shults, C. W., Conneally, P. M., Foroud, T., Parkinson Study Group. Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families. Hum. Molec. Genet. 12: 2599-2608, 2003. [PubMed: 12925570] [Full Text: https://doi.org/10.1093/hmg/ddg270]
Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Rudolph, A., Shults, C., Conneally, P. M., Foroud, T., the Parkinson Study Group. Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations. Am. J. Hum. Genet. 71: 124-135, 2002. [PubMed: 12058349] [Full Text: https://doi.org/10.1086/341282]
Scott, W. K., Nance, M. A., Watts, R. L., Hubble, J. P., Koller, W. C., Lyons, K., Pahwa, R., Stern, M. B., Colcher, A., Hiner, B. C., Jankovic, J., and 20 others. Complete genomic screen in Parkinson disease: evidence for multiple genes. JAMA 286: 2239-2244, 2001. [PubMed: 11710888] [Full Text: https://doi.org/10.1001/jama.286.18.2239]