A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.

ABSTRACT:

Background

In a large pedigree with an unusual phenotype of spastic paraplegia or dystonia and autosomal dominant inheritance, linkage analysis previously mapped the disease to chromosome 2q24-2q31.

Objective

The aim of this study is to identify the genetic cause and molecular basis of an unusual autosomal dominant spastic paraplegia and dystonia.

Methods

Whole exome sequencing following linkage analysis was used to identify the genetic cause in a large family. Cosegregation analysis was also performed. An additional 384 individuals with spastic paraplegia or dystonia were screened for pathogenic sequence variants in the adenosine triphosphate (ATP) synthase membrane subunit C locus 3 gene (ATP5MC3). The identified variant was submitted to the "GeneMatcher" program fo

SUBMITTER: Neilson DE 

PROVIDER: S-EPMC8840961 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature