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NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.

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_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.

SUBMITTER: Caglayan AO

PROVIDER: S-EPMC4804755 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature

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NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.

Caglayan Ahmet Okay AO Comu Sinan S Baranoski Jacob F JF Parman Yesim Y Kaymakçalan Hande H Akgumus Gozde Tugce GT Caglar Caner C Dolen Duygu D Erson-Omay Emine Zeynep EZ Harmanci Akdes Serin AS Mishra-Gorur Ketu K Freeze Hudson H HH Yasuno Katsuhito K Bilguvar Kaya K Gunel Murat M

European journal of medical genetics 20140909 1

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 ...[more]

PMID: 25220016

Dataset Information

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.

Publications

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.

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