Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.

ABSTRACT:

Background

Although many causative genes of hereditary spastic paraplegia (HSP) have been uncovered in recent years, there are still approximately 50% of HSP patients without genetically diagnosis, especially in autosomal recessive (AR) HSP patients. Rare studies have been performed to determine the genetic spectrum and clinical profiles of recessive HSP patients in the Chinese population.

Methods

In this study, we investigated 24 Chinese index AR/sporadic patients by targeted next-generation sequencing (NGS), Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). Further functional studies were performed to identify pathogenicity of those uncertain significance variants.

Results

We identified 11 mutations in HSP related genes including 7 novel

SUBMITTER: Wei Q 

PROVIDER: S-EPMC6593507 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature