Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.

ABSTRACT:

Objectives

Hereditary spastic paraplegia (HSP) is a genetically heterogeneous disease caused by over 70 genes, with a significant number of patients still genetically unsolved. In this study, we recruited a suspected HSP family characterized by spasticity, developmental delay, ataxia and hypomyelination, and intended to reveal its molecular etiology by whole exome sequencing (WES) and long-read sequencing (LRS) analyses.

Methods

WES was performed on 13 individuals of the family to identify the causative mutations, including analyses of SNVs (single-nucleotide variants) and CNVs (copy number variants). Accurate circular consensus (CCS) long-read sequencing (LRS) was used to verify the findings of CNV analysis from WES.

Results

SNVs analysis identified a missense varian

SUBMITTER: Zhou X 

PROVIDER: S-EPMC10502680 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature