Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.

ABSTRACT: De novo mutations that contribute to rare Mendelian diseases, including neurological disorders, have been recently identified. Whole-exome sequencing (WES) has become a powerful tool for the identification of inherited and de novo mutations in Mendelian diseases. Two important guidelines were recently published regarding the investigation of causality of sequence variant in human disease and the interpretation of novel variants identified in human genome sequences. In this study, a family with supposed movement disorders was sequenced via WES (including the proband and her unaffected parents), and a standard investigation and interpretation of the identified variants was performed according to the published guidelines. We identified a novel de novo mutation (c.2327C > T, p.P776L) in DYNC1H

SUBMITTER: Ding D 

PROVIDER: S-EPMC4742772 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature