DNAJC13 mutations in Parkinson disease

• Published in: Human molecular genetics Vol. 23; no. 7; pp. 1794 - 1801
• Main Authors: Vilariño-Güell, Carles, Rajput, Alex, Milnerwood, Austen J., Shah, Brinda, Szu-Tu, Chelsea, Trinh, Joanne, Yu, Irene, Encarnacion, Mary, Munsie, Lise N., Tapia, Lucia, Gustavsson, Emil K., Chou, Patrick, Tatarnikov, Igor, Evans, Daniel M., Pishotta, Frederick T., Volta, Mattia, Beccano-Kelly, Dayne, Thompson, Christina, Lin, Michelle K., Sherman, Holly E., Han, Heather J., Guenther, Bruce L., Wasserman, Wyeth W., Bernard, Virginie, Ross, Colin J., Appel-Cresswell, Silke, Stoessl, A. Jon, Robinson, Christopher A., Dickson, Dennis W., Ross, Owen A., Wszolek, Zbigniew K., Aasly, Jan O., Wu, Ruey-Meei, Hentati, Faycal, Gibson, Rachel A., McPherson, Peter S., Girard, Martine, Rajput, Michele, Rajput, Ali H., Farrer, Matthew J.
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 01.04.2014
• Subjects: Adult; Age of Onset; Aged; Base Sequence; Case-Control Studies; Cells, Cultured; Endocytosis - genetics; Endosomes - genetics; Family; Female; Genetic Predisposition to Disease; Haplotypes; Humans; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; Lewy Bodies - genetics; Lewy Body Disease - genetics; Male; Middle Aged; Molecular Chaperones - genetics; Molecular Chaperones - immunology; Mutation - genetics; Parkinson Disease - genetics; Pedigree; Protein Serine-Threonine Kinases - genetics; Sequence Alignment; Sequence Analysis, DNA; Vesicular Transport Proteins - genetics

A Saskatchewan multi-incident family was clinically characterized with Parkinson disease (PD) and Lewy body pathology. PD segregates as an autosomal-dominant trait, which could not be ascribed to any known mutation. DNA from three affected members was subjected to exome sequencing. Genome alignment,...