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dc.contributor.authorMyers, Kenneth A-
dc.contributor.authorBennett, Mark F-
dc.contributor.authorChow, Chung W-
dc.contributor.authorCarden, Susan M-
dc.contributor.authorMandelstam, Simone A-
dc.contributor.authorBahlo, Melanie-
dc.contributor.authorScheffer, Ingrid E-
dc.identifier.citationAmerican journal of medical genetics. Part A 2018; 176(1): 230-234-
dc.description.abstractInherited metabolic disorders are traditionally diagnosed using broad and expensive panels of screening tests, often including invasive skin and muscle biopsy. Proponents of next-generation genetic sequencing have argued that replacing these screening panels with whole exome sequencing (WES) would save money. Here, we present a complex patient in whom WES allowed diagnosis of GM1 gangliosidosis, caused by homozygous GLB1 mutations, resulting in β-galactosidase deficiency. A 10-year-old girl had progressive neurologic deterioration, macular cherry-red spot, and cornea verticillata. She had marked clinical improvement with initiation of the ketogenic diet. Comparative genomic hybridization microarray showed mosaic chromosome 3 paternal uniparental disomy (UPD). GM1 gangliosidosis was suspected, however β-galactosidase assay was normal. Trio WES identified a paternally-inherited pathogenic splice-site GLB1 mutation (c.75+2dupT). The girl had GM1 gangliosidosis; however, enzymatic testing in blood was normal, presumably compensated for by non-UPD cells. Severe neurologic dysfunction occurred due to disruptive effects of UPD brain cells.-
dc.subjectGM1 gangliosidosis-
dc.subjectcherry-red spot-
dc.subjectketogenic diet-
dc.subjectlysosomal disorders-
dc.subjectskin biopsy-
dc.subjectuniparental disomy-
dc.subjectwhole exome sequencing-
dc.titleMosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.-
dc.typeJournal Article-
dc.identifier.journaltitleAmerican journal of medical genetics. Part A-
dc.identifier.affiliationDepartment of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia-
dc.identifier.affiliationThe Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia-
dc.identifier.affiliationDepartment of Anatomical Pathology, Royal Children's Hospital, Parkville, Victoria, Australia-
dc.identifier.affiliationDepartment of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia-
dc.identifier.affiliationThe Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia-
dc.identifier.affiliationThe Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia-
dc.identifier.affiliationDepartment of Radiology, The University of Melbourne, Parkville, Victoria, Australia-
dc.identifier.affiliationDepartment of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia-
dc.identifier.affiliationDepartment of Mathematics and Statistics, The University of Melbourne, Parkville, Victoria, Australia-
dc.type.austinCase Reports-
dc.type.austinJournal Article-
item.fulltextNo Fulltext-
item.openairetypeJournal Article-
item.openairecristype Research Centre-
Appears in Collections:Journal articles
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