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

Genetics in medicine, 2014-10, Vol.16 (10), p.751-758 [Peer Reviewed Journal]

American College of Medical Genetics and Genomics 2014. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2014.22 ;PMID: 24651605

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Title:
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway
Author: Enns, Gregory M ; Shashi, Vandana ; Bainbridge, Matthew ; Gambello, Michael J ; Zahir, Farah R ; Bast, Thomas ; Crimian, Rebecca ; Schoch, Kelly ; Platt, Julia ; Cox, Rachel ; Bernstein, Jonathan A ; Scavina, Mena ; Walter, Rhonda S ; Bibb, Audrey ; Jones, Melanie ; Hegde, Madhuri ; Graham, Brett H ; Need, Anna C ; Oviedo, Angelica ; Schaaf, Christian P ; Boyle, Sean ; Butte, Atul J ; Chen, Rui ; Chen, Rong ; Clark, Michael J ; Haraksingh, Rajini ; Cowan, Tina M ; He, Ping ; Langlois, Sylvie ; Zoghbi, Huda Y ; Snyder, Michael ; Gibbs, Richard A ; Freeze, Hudson H ; Goldstein, David B
Subjects: Abnormalities, Multiple - enzymology ; Abnormalities, Multiple - genetics ; Abnormalities, Multiple - pathology ; Adolescent ; Child, Preschool ; Developmental Disabilities - pathology ; Endoplasmic reticulum ; Endoplasmic Reticulum-Associated Degradation - genetics ; Exome - genetics ; Family Health ; Fatal Outcome ; Female ; Genome-Wide Association Study - methods ; Humans ; Infant ; Male ; Microcephaly - pathology ; Movement Disorders - pathology ; Muscle Hypotonia - pathology ; Mutation ; Pedigree ; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase - deficiency ; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase - genetics ; Retrospective Studies ; Seizures - pathology ; Sequence Analysis, DNA - methods ; Signal Transduction - genetics ; Young Adult
Is Part Of: Genetics in medicine, 2014-10, Vol.16 (10), p.751-758
Description: 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. Whole-genome, whole-exome, or standard Sanger sequencing techniques were employed. Retrospective chart reviews were performed in order to obtain clinical data. All patients had global developmental delay, a movement disorder, and hypotonia. Other common findings included hypolacrima or alacrima (7/8), elevated liver transaminases (6/7), microcephaly (6/8), diminished reflexes (6/8), hepatocyte cytoplasmic storage material or vacuolization (5/6), and seizures (4/8). The nonsense mutation c.1201A>T (p.R401X) was the most common deleterious allele. NGLY1 deficiency is a novel autosomal recessive disorder of the endoplasmic reticulum-associated degradation pathway associated with neurological dysfunction, abnormal tear production, and liver disease. The majority of patients detected to date carry a specific nonsense mutation that appears to be associated with severe disease. The phenotypic spectrum is likely to enlarge as cases with a broader range of mutations are detected.
Publisher: United States: Elsevier Limited
Language: English
Identifier: ISSN: 1098-3600
EISSN: 1530-0366
DOI: 10.1038/gim.2014.22
PMID: 24651605
Source: MEDLINE
ProQuest Central

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

American College of Medical Genetics and Genomics 2014. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2014.22 ;PMID: 24651605

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