Homozygous truncating variant in causes a novel congenital disorder of glycosylation with neurological involvement.

Background: Enzymes of the Golgi implicated in N-glycan processing are critical for brain development, and defects in many are defined as congenital disorders of glycosylation (CDG). Involvement of the Golgi mannosidase, MAN2A2 has not been identified previously as causing glycosylation defects.

Methods: Exome sequencing of affected individuals was performed with Sanger sequencing of the transcript to confirm the variant.