NGLY1 deficiency-A rare congenital disorder of deglycosylation.
NGLY1
congenital disorders of deglycosylation
dyskinesia
global developmental delay
whole exome sequencing
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
May 2020
May 2020
Historique:
received:
10
10
2019
revised:
22
01
2020
accepted:
13
02
2020
entrez:
13
5
2020
pubmed:
13
5
2020
medline:
13
5
2020
Statut:
epublish
Résumé
Pathogenic variants in the NGLY1 gene are associated with a Congenital Disorder of Deglycosylation (CDDG) characterized by delays in reaching developmental milestones, complex hyperkinetic movement disorder, transient elevation of transaminases, and alacrima or hypolacrima. To date, only few cases of NGLY1 deficiency have been identified and reported in the literature. This report highlights a first child of non-consanguineous parents with no relevant family history who presented with hypotonia and poor weight gain since birth. At 2 months, the child developed paroxysmal cervical dystonia, posteriorly resolving spontaneously by age of 3. Subsequently, delays in reaching developmental milestones, ataxia, dyskinesia, visual impairment due to cone rod retinal dystrophy, low triglycerides, and persistently elevated liver transaminases were observed. Extensive etiological investigation was performed, including array-CGH and metabolic evaluation with no abnormalities to note. Trio whole exome analysis identified a homozygous pathogenic variant of the NGLY
Identifiants
pubmed: 32395402
doi: 10.1002/jmd2.12108
pii: JMD212108
pmc: PMC7203651
doi:
Types de publication
Case Reports
Langues
eng
Pagination
2-9Informations de copyright
© 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.
Références
J Biol Chem. 2013 Mar 8;288(10):6936-45
pubmed: 23329837
JIMD Rep. 2019 Jul 22;49(1):21-29
pubmed: 31497478
J Med Genet. 2012 Jun;49(6):353-61
pubmed: 22581936
Eur J Med Genet. 2015 Jan;58(1):39-43
pubmed: 25220016
Glycobiology. 2015 Aug;25(8):836-44
pubmed: 25900930
Physiol Rep. 2019 Feb;7(3):e13979
pubmed: 30740912
J Inherit Metab Dis. 2011 Aug;34(4):923-7
pubmed: 21541726
Am J Med Genet A. 2015 Apr;167A(4):816-20
pubmed: 25707956
Genet Med. 2017 Feb;19(2):160-168
pubmed: 27388694
Bioorg Med Chem Lett. 2017 Jul 1;27(13):2962-2966
pubmed: 28512024
Eur J Hum Genet. 2016 May;24(5):660-5
pubmed: 26350515
Genet Med. 2014 Oct;16(10):751-8
pubmed: 24651605