Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.

ABSTRACT: Spinocerebellar disorders are a vast group of rare neurogenetic conditions, generally characterized by overlapping clinical symptoms including progressive cerebellar ataxia, spastic paraparesis, cognitive deficiencies, skeletal/muscular and ocular abnormalities. The objective of the present study is to identify the underlying genetic causes of the rare spinocerebellar disorders in the Pakistani population. Herein, nine consanguineous families presenting different spinocerebellar phenotypes have been investigated using whole exome sequencing. Sanger sequencing was performed for segregation analysis in all the available individuals of each family. The molecular analysis of these families identified six novel pathogenic/likely pathogenic variants; ZFYVE26: c.1093del, SACS: c.120

SUBMITTER: Saadi SM 

PROVIDER: S-EPMC10379343 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature