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NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation

Authors :
Ivana Dabaj
Bénédicte Sudrié-Arnaud
François Lecoquierre
Kimiyo Raymond
Franklin Ducatez
Anne-Marie Guerrot
Sarah Snanoudj
Sophie Coutant
Pascale Saugier-Veber
Stéphane Marret
Gaël Nicolas
Abdellah Tebani
Soumeya Bekri
Source :
Life, Vol 11, Iss 3, p 187 (2021)
Publication Year :
2021
Publisher :
MDPI AG, 2021.

Abstract

NGLY1 deficiency is the first recognized autosomal recessive disorder of N-linked deglycosylation (NGLY1-CDDG). This severe multisystemic disease is still poorly known and, to date, most cases have been diagnosed through whole exome or genome sequencing. The aim of this study is to provide the clinical, biochemical and molecular description of the first NGLY1-CDDG patient from France along with a literature review. The index case presented with developmental delay, acquired microcephaly, hypotonia, alacrimia, feeding difficulty, and dysmorphic features. Given the complex clinical picture and the multisystemic involvement, a trio-based exome sequencing was conducted and urine oligosaccharides were assessed using mass spectrometry. The exome sequencing revealed a novel variant in the NGLY1 gene in a homozygous state. NGLY1 deficiency was confirmed by the identification of the Neu5Ac1Hex1GlcNAc1-Asn oligosaccharide in the urine of the patient. Literature review revealed the association of some key clinical and biological features such as global developmental delay—hypertransaminasemia, movement disorders, feeding difficulties and alacrima/hypolacrima.

Details

Language :
English
ISSN :
20751729
Volume :
11
Issue :
3
Database :
Directory of Open Access Journals
Journal :
Life
Publication Type :
Academic Journal
Accession number :
edsdoj.93a77fd112040858a0f105c6bb0c938
Document Type :
article
Full Text :
https://doi.org/10.3390/life11030187