Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene.

Dahae YangSanghyun ChoSung Im ChoManjin KimMoon-Woo SeongWoonhyoung Lee

Published in: Orphanet journal of rare diseases (2022)

The findings support the disease-causing role of PANK2 and indicate the possibility that exonic deletion of PANK2 found in PKAN is mediated through Alu-mediated homologous recombination.

Keyphrases

dna repair
dna damage
genome wide
copy number
protein kinase
tyrosine kinase
single cell
dna methylation
high throughput sequencing