A novel GBE1 gene variant in a child with glycogen storage disease type IV.
Hum Pathol
; 54: 152-6, 2016 08.
Article
em En
| MEDLINE
| ID: mdl-27107456
Glycogen storage disease type IV is an autosomal recessive disorder of carbohydrates caused by deficiency of amylo-1-4-glycanoglycosyltransferase, which leads to accumulation of amylopectin-like polysaccharides in tissues including liver, heart and neuromuscular system. More than 40 different mutations in the glycogen branching enzyme gene (GBE1) have been described. In this study, we report a 2-year-old boy who presented with developmental delay and muscle weakness. He subsequently was diagnosed with glycogen storage disease type IV based on a liver biopsy histology and electron microscopy. Glycogen branching enzyme activity was in the low range. Genetic analysis demonstrated a novel heterozygous variant (c.760A>G; p.Thr254Ala) in exon 6 of the GBE1 gene, which is believed to be pathogenic. This variant was inherited from the patient's mother who was asymptomatic with normal glycogen branching enzyme activity. Whole-exome sequencing failed to reveal additional variations in the GBE1 gene.
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Base de dados:
MEDLINE
Assunto principal:
Variação Genética
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Sistema da Enzima Desramificadora do Glicogênio
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Doença de Depósito de Glicogênio Tipo IV
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
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Humans
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Male
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article