Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement.

ABSTRACT:

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 MAN2A2 transcript to confirm the variant. N-glycans were analysed in patient-derived lymphoblasts to determine the functional effects of the variant. A cell-based complementation assay was designed to assess the pathogenicity of identified variants using MAN2A1/MAN2A2 double knock out HEK293 cell lines.

Results

We identified a multiplex consanguineous family with a homozygous tru

SUBMITTER: Mahajan S 

PROVIDER: S-EPMC10169543 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature