ArticleBMC medical genetics2020
Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation.
Article in BMC medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 23 citations in OpenAlex.
- Cytosolic Peptide: N-Glycanase (NGLY1)-from Basic Biology to Genetic Disorder, NGLY1 Deficiency.Advances in experimental medicine and biology · 2026Review
- NGLY1 deficiency - clinical features and therapeutic strategy.Journal of human genetics · 2025Review
- Article
- An Assay System for Plate-based Detection of Endogenous Peptide:Bio-protocol · 2025Article
- NGLY1-CDDG: report of two cases from India and brief review of literature.Journal of genetics · 2025Review
- Systemic gene therapy corrects the neurological phenotype in a mouse model of NGLY1 deficiency.JCI insight · 2024Article
- Development of new NGLY1 assay systems - toward developing an early screening method for NGLY1 deficiency.Glycobiology · 2024Review
- Functional prediction of the potential NGLY1 mutations associated with rare disease CDG.Heliyon · 2024Article
- Intranasal oxytocin suppresses seizure-like behaviors in a mouse model of NGLY1 deficiency.Communications biology · 2024Article
- Development of a fluorescence and quencher-based FRET assay for detection of endogenous peptide:N-glycanase/NGLY1 activity.The Journal of biological chemistry · 2024Article
- NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.Orphanet journal of rare diseases · 2022Article
- NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology.Cells · 2022Review
- A method for assaying peptide: N-glycanase/N-glycanase 1 activities in crude extracts using an N-glycosylated cyclopeptide.Glycobiology · 2022Article
- Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.Molecular brain · 2021Article
- NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.Life (Basel, Switzerland) · 2021Article
- JF1/B6F1 Ngly1Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2021Article
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7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundNGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnormal liver function, and poor growth. This study presents a 10-month-old female infant with elevated liver transaminases, developmental delay, epilepsy (subclinical seizures), and constipation who possesses two compound heterozygous mutations in NGLY1. CASE PRESENTATION: The proband was admitted to the Department of Gastroenterology, Children's Hospital of Soochow University, with elevated liver transaminases. She had a history of intrauterine growth retardation and exhibited elevated transaminases, global developmental delay, seizures and light constipation during early infancy. Whole-exome sequencing (WES) and Sanger sequencing revealed two compound heterozygous mutations in NGLY1 that had been inherited in an autosomal recessive manner from her parents. One was a termination mutation, c.1168C > T (p.R390*), and the other was a missense mutation, c.1156G > T (p.D386Y). NGLY1-CDDG is a rare disorder, with a few dozen cases. The two mutations of this proband has not been previously identified.
conclusionsThis study investigated a Chinese proband with NGLY1-CDDG born from healthy parents who was studied using WES and Sanger sequencing to identify the causative mutations. We identified two novel compound heterozygous mutations in NGLY1, c.1168C > T (p.R390*)/c.1156G > T (p.D386Y), which are probably causative of disease.
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