Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations
Copyright policy )Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations
The clinically and genetically heterogenous foetal akinesias have low rates of genetic diagnosis. Exome sequencing of two siblings with phenotypic lethal multiple pterygium syndrome identified compound heterozygozity for a known splice site mutation (c.691+2T>C) and a novel missense mutation (c.956A>G; p.His319Arg) in glycogen branching enzyme 1 (GBE1). GBE1 mutations cause glycogen storage disease IV (GSD IV), including a severe foetal akinesia sub-phenotype. Re-investigating the muscle pathology identified storage material, consistent with GSD IV, which was confirmed biochemically. This study highlights the power of exome sequencing in genetically heterogeneous diseases and adds multiple pterygium syndrome to the phenotypic spectrum of GBE1 mutation.
- University of Western Australia Australia
- Women's and Children's Hospital Australia
- Royal Perth Hospital Australia
- Boston Children's Hospital United States
- University of Adelaide Australia
Male, GBE1, Genotype, Biopsy, Molecular Sequence Data, Mutation, Missense, Fatal Outcome, Humans, Abnormalities, Multiple, Exome, Amino Acid Sequence, Foetal akinesia, Muscle, Skeletal, Arthrogryposis, Glycogen storage disease, Whole exome sequencing, Australia, Infant, Newborn, Glycogen Debranching Enzyme System, Glycogen Storage Disease, Pedigree, Phenotype, Female, Pterygia, Malignant Hyperthermia
Male, GBE1, Genotype, Biopsy, Molecular Sequence Data, Mutation, Missense, Fatal Outcome, Humans, Abnormalities, Multiple, Exome, Amino Acid Sequence, Foetal akinesia, Muscle, Skeletal, Arthrogryposis, Glycogen storage disease, Whole exome sequencing, Australia, Infant, Newborn, Glycogen Debranching Enzyme System, Glycogen Storage Disease, Pedigree, Phenotype, Female, Pterygia, Malignant Hyperthermia
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