Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families.

ABSTRACT: Background: REEP1 is a common cause of autosomal dominant hereditary spastic paraplegia (HSP) but is rare in China. The pathological mechanism of REEP1 is not fully understood. Methods: We screened for REEP1 mutations in 31 unrelated probands from Chinese HSP families using next-generation sequencing targeting pathogenic genes for HSP and other related diseases. All variants were validated by Sanger sequencing. The proband family members were also screened for variants for the segregation analysis. All previously reported REEP1 mutations and cases were reviewed to clarify the genetic and clinical features of REEP1-related HSP. Results: A pathogenic mutation, REEP1c. 125G>A (p.Trp42^*), was detected in a pure HSP family from North China ou

SUBMITTER: Ma X 

PROVIDER: S-EPMC7325443 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature