Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-02

AUTHORS

Christina Lam, Carlos Ferreira, Donna Krasnewich, Camilo Toro, Lea Latham, Wadih M. Zein, Tanya Lehky, Carmen Brewer, Eva H. Baker, Audrey Thurm, Cristan A. Farmer, Sergio D. Rosenzweig, Jonathan J. Lyons, John M. Schreiber, Andrea Gropman, Shilpa Lingala, Marc G. Ghany, Beth Solomon, Ellen Macnamara, Mariska Davids, Constantine A. Stratakis, Virginia Kimonis, William A. Gahl, Lynne Wolfe

ABSTRACT

PURPOSE: The cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of the β-aspartyl glycosylamine bond of N-linked glycoproteins, releasing intact N-glycans from proteins bound for degradation. In this study, we describe the clinical spectrum of NGLY1 deficiency (NGLY1-CDDG). METHODS: Prospective natural history protocol. RESULTS: In 12 individuals ages 2 to 21 years with confirmed, biallelic, pathogenic NGLY1 mutations, we identified previously unreported clinical features, including optic atrophy and retinal pigmentary changes/cone dystrophy, delayed bone age, joint hypermobility, and lower than predicted resting energy expenditure. Novel laboratory findings include low cerebral spinal fluid (CSF) total protein and albumin and unusually high antibody titers toward rubella and/or rubeola following vaccination. We also confirmed and further quantified previously reported findings noting that decreased tear production, transient transaminitis, small feet, a complex hyperkinetic movement disorder, and varying degrees of global developmental delay with relatively preserved socialization are the most consistent features. CONCLUSION: Our prospective phenotyping expands the clinical spectrum of NGLY1-CDDG, offers prognostic information, and provides baseline data for evaluating therapeutic interventions.Genet Med 19 2, 160-168. More... »

PAGES

160

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/gim.2016.75

DOI

http://dx.doi.org/10.1038/gim.2016.75

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1040413311

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27388694


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