Long-read sequencing resolves a complex structural variant in PRKN Parkinson's disease.

ABSTRACT:

Background

PRKN mutations are the most common cause of young onset and autosomal recessive Parkinson's disease (PD). PRKN is located in FRA6E which is one of the common fragile sites in the human genome, making this region prone to structural variants. However, complex structural variants such as inversions of PRKN are seldom reported, suggesting that there are potentially unrevealed complex pathogenic PRKN structural variants.

Objectives

To identify complex structural variants in PRKN using long-read sequencing.

Methods

We investigated the genetic cause of monozygotic twins presenting with a young onset dystonia-parkinsonism using targeted sequencing, whole exome sequencing, multiple ligation probe amplification, and long-read. We a

SUBMITTER: Daida K 

PROVIDER: S-EPMC10543050 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature