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NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.
- Source :
-
European journal of medical genetics [Eur J Med Genet] 2015 Jan; Vol. 58 (1), pp. 39-43. Date of Electronic Publication: 2014 Sep 09. - Publication Year :
- 2015
-
Abstract
- N-glycanase 1 (NGLY1) is a conserved enzyme that is responsible for the deglycosylation of misfolded N-glycosylated proteins in the cytoplasm prior to their proteasome-mediated degradation. Disruption of this degradation process has been associated with various neurologic diseases including amyotrophic lateral sclerosis and Parkinson's disease. Here, we describe two siblings with neuromotor impairment, apparent intellectual disability, corneal opacities, and neuropathy who were found to possess a novel homozygous frame-shift mutation due to a 4 base pair deletion in NGLY1 (c.1533&#95;1536delTCAA, p.Asn511LysfsX51). We hypothesize that this mutation likely limits the capability of neuronal cells to respond to stress due to accumulation of misfolded proteins, thereby impairing their survival and resulting in progressive loss of neurological function.<br /> (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)
- Subjects :
- Abnormalities, Multiple genetics
Adolescent
Child
Corneal Opacity genetics
Female
Frameshift Mutation
Genotype
Humans
Male
Developmental Disabilities genetics
Intellectual Disability genetics
Movement Disorders genetics
Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase genetics
Peripheral Nervous System Diseases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1878-0849
- Volume :
- 58
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- European journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 25220016
- Full Text :
- https://doi.org/10.1016/j.ejmg.2014.08.008