Identification of POLR3B biallelic mutations-associated hypomyelinating leukodystrophy-8 in two siblings.

Abstract excerpt

POLR3B gene encodes the 2nd largest catalytic subunit and affects the function of RNA polymerase III enzymes in transcription. Bi-allelic variants in POLR3B pathogenically cause hypomyelinating leukodystrophy-8 (HLD8). Herein, we recruited a family with two patients, who presented clinically with cerebellar atrophy, intellectual disability, hypogonadotropic hypogonadism, and visual problems. We identified the two...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Hereditary Central Nervous System Demyelinating Diseases
• Share to Mutation