Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation—Case report

Abstract

Abstract POLR3A is a main subunit encoding RNA polymerase III, which is involved in transcription of many RNA structures. Here, we report a new presentation of c.1771‐6C > G intronic variant presenting as developmental regression, seizure, and dystonia in a 6‐year‐old boy associated with striatum involvement in the brain MRI.

Keywords

• dystonia
• leukodystrophy
• POLR3A
• striatum