CHASERR deletion

Introduction

Epidemilogy:

• rare, 3 cases

Pathology

• deletions of CHASERR, a long non-coding RNA
• results in increased expression of a nearby coding gene CHD2
• early-onset syndrome of severe encephalopathy with cortical atrophy, cerebral hypomyelination, & facial dysmorphism

Clinical manifestations

• one patient Emma
  • wheelchair-bound
  • non-verbal
  • uses a feeding tube
  • severe intellectual delays

More general terms

• neurologic disease
• chromosomal deletion