ArticleNeurology2012
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.
Article in Neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.Molecular genetics and metabolism · 2020Pooled it
- Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis.Molecular genetics and metabolism · 2026Article
- Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene.Frontiers in pediatrics · 2025Article
- Healthcare Burden of Rare Diseases: A Population-Based Study in Tuscany (Italy).International journal of environmental research and public health · 2022Article
- Late-infantile GM1 gangliosidosis: A case report.Medicine · 2022Article
- Rare Diseases in Glycosphingolipid Metabolism.Advances in experimental medicine and biology · 2022Article
- GM1 Gangliosidosis: Mechanisms and Management.The application of clinical genetics · 2021Review
- The undiagnosed diseases program: Approach to diagnosis.Translational science of rare diseases · 2020Article
- Axonopathy and Reduction of Membrane Resistance: Key Features in a New Murine Model of Human GJournal of clinical medicine · 2020Article
- Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.Scientific reports · 2019Article
- [Identification and pathogenicity prediction of a novel GLB1 variant c.101T>C (p.Ile34Thr) in an infant with GM1 gangliosidosis].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.Case reports in genetics · 2018Article
- Diagnosis of rare diseases under focus: impacts for Canadian patients.Journal of community genetics · 2018Article
- Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.Iranian biomedical journal · 2016Article
- Gene regulation and genetics in neurochemistry, past to future.Journal of neurochemistry · 2016Review
- The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.Molecular genetics and metabolism · 2016Article
- Lysosomal diseases: diagnostic update.Journal of inherited metabolic disease · 2014Review
- Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.BMC medical genetics · 2014Article
- Next-generation sequencing in understanding complex neurological disease.Expert review of neurotherapeutics · 2013Review
- MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.Orphanet journal of rare diseases · 2013Article
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Authors and funding
17 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveTo utilize high-throughput sequencing to determine the etiology of juvenile-onset neurodegeneration in a 19-year-old woman with progressive motor and cognitive decline.
methodsExome sequencing identified an initial list of 133,555 variants in the proband's family, which were filtered using segregation analysis, presence in dbSNP, and an empirically derived gene exclusion list. The filtered list comprised 52 genes: 21 homozygous variants and 31 compound heterozygous variants. These variants were subsequently scrutinized with predicted pathogenicity programs and for association with appropriate clinical syndromes.
resultsExome sequencing data identified 2 GLB1 variants (c.602G>A, p.R201H; c.785G>T, p.G262V). β-Galactosidase enzyme analysis prior to our evaluation was reported as normal; however, subsequent testing was consistent with juvenile-onset GM1-gangliosidosis. Urine oligosaccharide analysis was positive for multiple oligosaccharides with terminal galactose residues.
conclusionsWe describe a patient with juvenile-onset neurodegeneration that had eluded diagnosis for over a decade. GM1-gangliosidosis had previously been excluded from consideration, but was subsequently identified as the correct diagnosis using exome sequencing. Exome sequencing can evaluate genes not previously associated with neurodegeneration, as well as most known neurodegeneration-associated genes. Our results demonstrate the utility of "agnostic" exome sequencing to evaluate patients with undiagnosed disorders, without prejudice from prior testing results.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.