Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.

ABSTRACT:

Background

Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagnosed on the basis of changes in brain magnetic resonance imaging which indicate an abnormal brain iron accumulation in the basal ganglia. However, the diagnosis of specific types should be based on both clinical findings and molecular genetic testing for genes associated with different types of NBIA, including PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17. The purpose of this study was to investigate disease-causing mutations in two patients with distinct NBIA disorders.

Case presentation

Whole Exome sequencing using Next Generatio

SUBMITTER: Dastsooz H 

PROVIDER: S-EPMC5562981 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature