Exome Sequencing, Linkage Analysis, and Data Filtration in a Family Affected with Dystonia Chorea Taylor L.

Boyd1 Mark Matsushita Ph.D2, Wendy Raskind MD, Ph.D2,3, Yingzhang Chen MD, Ph.D2
1

University of Washington GenOM Project, University of Washington Departments of 2Medicine

and 3Psychiatry and Behavioral Sciences. Funded by the National Institutes of Health

Dystonia Chorea is a very rare disease that includes, the recurrent, aimless, uncontrollable, and often painful movements of chorea, as well as the characteristics of dystonia, such as twisting contorted movements or abnormal postures caused by sustained muscle contractions. The objective of the Raskind Lab is to identify the genes that are responsible for rare forms of neurogenetic diseases such as Dystonia Chorea, using exome sequencing, data filtration and linkage analysis. For the family affected by Dystonia Chorea, chromosome X was selected for initial analysis because the pedigree suggested possible X linkage. Chromosome 4 and 9 held candidate genes with some evidence for linkage. Within these regions, the variants were filtered for sequence-read quality and sharing of variants by affected people. Only variants for which the affected people were heterozygous for the alternate and reference bases were further considered. We completed literature searches for protein functions and disease similarities with Dystonia Chorea, however none were identified. We will assess a more complete linkage analysis to identify new regions of interest on other chromosomes for analysis of exome variants.