A high-penetrance form of late-onset XXXX maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3.

@entity3519 @entity24987 @entity3520 @entity7922
The @entity3520 are a genetically heterogeneous group of disorders that can be subdivided in pure @entity3519 , @entity3519 , and paroxymal @entity3519 . Four pure @entity3520 loci have been mapped to date, @entity7922 , 6, 7, and 13, with varying penetrance. We report the mapping of a novel locus for a late-onset form of @entity24987 in a family from northern Sweden. The disease is inherited in an autosomal dominant manner with a penetrance that may be as high as 90%. The @entity24987 locus in this family was mapped to chromosome 2q14.3-q21.3 using an Illumina linkage panel. We also confirmed the linkage, using ten tightly linked microsatellite markers in the region, giving a maximum LOD score of 5.59 for marker D2S1260. The disease-critical region is 3.6-8.9 Mb depending on the disease status of one individual carrying a centromeric recombination. Mutational analysis was performed on 22 genes in the disease-critical region, including all known and hypothetical genes in the smaller, 3.6-Mb region, but no disease-specific mutations were identified. Copy number variation analysis of the region did not reveal any deletions or duplications. In order to increase the chances of finding the disease gene, fine-mapping may be necessary to decrease the region of interest. This report will hopefully result in the identification of additional @entity3519 families with linkage to the same locus, and thereby, refinement of the disease critical region.
