A novel GBE1 gene variant in a child with glycogen storage disease type IV

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• 作者：Samar M. Said ; MD^a ; ^{said.samar@mayo.edu" class="auth_mail" title="E-mail the corresponding author} ; Marine I. Murphree ; CGC^b ; Taofic Mounajjed ; MD^a ; Mounif El-Youssef ; MD^c ; Lizhi Zhang ; MD^a
• 关键词：Glycogen storage disease ; Novel GBE1 variant ; Liver biopsy ; Glycogen branching enzyme ; Hepatocyte inclusions
• 刊名：Human Pathology
• 出版年：2016
• 出版时间：August 2016
• 年：2016
• 卷：54
• 期：Complete
• 页码：152-156
• 全文大小：933 K

文摘

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.