Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.

ABSTRACT:

Importance

Movement disorders are characterized by a marked genotypic and phenotypic heterogeneity, complicating diagnostic work in clinical practice and molecular diagnosis.

Objective

To develop and evaluate a targeted sequencing approach using a customized panel of genes involved in movement disorders.

Design, setting and participants

We selected 127 genes associated with movement disorders to create a customized enrichment in solution capture array. Targeted high-coverage sequencing was applied to DNA samples taken from 378 eligible patients at 1 Luxembourgian, 1 Algerian, and 25 French tertiary movement disorder centers between September 2014 and July 2016. Patients were suspected of having inherited movement disorders because of early onset, family history, and/o

SUBMITTER: Montaut S 

PROVIDER: S-EPMC6233854 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature