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Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Novel Homozygous
GLDC
variants causing La ...
Novel Homozygous
GLDC
variants causing Late-onset Glycine Encephalopathy: A Case report and Updated Review of the Literature
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Pdf Summary
This document is a case report and updated review of the literature on a novel homozygous GLDC variant causing late-onset glycine encephalopathy. The case involves an eight-year-old boy with global developmental delay and epilepsy. Prenatal ultrasound showed polyhydramnios and the examination of the placenta revealed a giant chorioangioma. The boy was born prematurely to consanguineous parents and displayed various health issues such as ventricular hemorrhage, respiratory distress, and hydrocele. Brain MRI showed Dandy-Walker malformation and EEG demonstrated multifocal spikes. The boy developed seizures at the age of two and a half years, which were controlled with medication. The boy exhibited facial dysmorphic features and had developmental delays, learning disabilities, dyslexia, and dysgraphia. Genetic testing, including array-CGH and targeted-NGS, showed no chromosomal imbalances or abnormalities in epilepsy-related genes. However, whole-exome sequencing revealed a homozygous GLDC pathogenic variant. The study confirms the association between GLDC variants and nonketotic hyperglycinemia, expands the understanding of the clinical and mutational spectrum of this condition, and emphasizes the importance of using WES in the diagnosis of metabolic disorders. The article has been accepted for publication in Molecular Genetics and Metabolism Reports. The presented findings contribute to the knowledge surrounding GLDC-related conditions and highlight the significance of prenatal ultrasound and facial dysmorphism in diagnosing nonketotic hyperglycinemia.
Asset Subtitle
Presenting Author - Minh-Tuan HUYNH, MD PhD; Co-Author - Emilie LANDAIS, Phd; Co-Author - Jean-Madeleine De Sainte Agathe, MD; Co-Author - Anne Panchout, Ms., Sage-femme; Co-Author - Henri Bruel, MD;
Meta Tag
array CGH
Biochemical genetics
Congenital Anomaly
Dysmorphology
Exome sequencing
Genotype-Phenotype Correlations
Metabolic Disorder
Co-Author
Emilie LANDAIS, Phd
Co-Author
Jean-Madeleine De Sainte Agathe, MD
Co-Author
Anne Panchout, Ms., Sage-femme
Co-Author
Henri Bruel, MD
Presenting Author
Minh-Tuan HUYNH, MD PhD
Keywords
GLDC variant
late-onset glycine encephalopathy
global developmental delay
epilepsy
polyhydramnios
chorioangioma
premature birth
Dandy-Walker malformation
seizures
facial dysmorphism
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