Ontology highlight
ABSTRACT:
SUBMITTER: Zhang L
PROVIDER: S-EPMC5325812 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Zhang Linwei L McFarland Karen N KN Subramony S H SH Heilman Kenneth M KM Ashizawa Tetsuo T
Cerebellum (London, England) 20170401 2
The goal of this report is to describe the genetic mutations of a patient with cerebellar degeneration who had ataxia and impaired emotional communication that led to damage of family relationships. We extracted genomic DNA from peripheral blood lymphocytes and performed whole exome sequencing (WES) in this patient and his unaffected parents and siblings. Found mutations were confirmed by Sanger sequencing in each individual. We found compound heterozygous mutations in the paraplegin (SPG7) gene ...[more]