Identification and analyses of exonic and copy number variants in spastic paraplegia.

ABSTRACT: Hereditary spastic paraplegias are a diverse group of degenerative disorders that are clinically categorized as isolated; with involvement of lower limb spasticity, or symptomatic, where spastic paraplegia is complicated by further neurological features. We sought to identify the underlying genetic causes of these disorders in the participating patients. Three consanguineous families with multiple affected members were identified by visiting special schools in the Punjab Province. DNA was extracted from blood samples of the participants. Exome sequencing was performed for selected patients from the three families, and the data were filtered to identify rare homozygous variants. ExomeDepth was used for the delineation of the copy number variants. All patients had varying degrees of intellec

SUBMITTER: Shafique A 

PROVIDER: S-EPMC11192879 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature