Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

ABSTRACT:

Purpose

The endoplasmic reticulum-associated degradation pathway is responsible for the translocation of misfolded proteins across the endoplasmic reticulum membrane into the cytosol for subsequent degradation by the proteasome. To define the phenotype associated with a novel inherited disorder of cytosolic endoplasmic reticulum-associated degradation pathway dysfunction, we studied a series of eight patients with deficiency of N-glycanase 1.

Methods

Whole-genome, whole-exome, or standard Sanger sequencing techniques were employed. Retrospective chart reviews were performed in order to obtain clinical data.

Results

All patients had global developmental delay, a movement disorder, and hypotonia. Other common findings included hypolacrima or alacrima (7/8), elevated liv

SUBMITTER: Enns GM 

PROVIDER: S-EPMC4243708 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature