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Whole exome sequencing in patients with white matter abnormalities
Open accessAbstract
Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or genetic leukoencephalopathy. WES analyses were performed on trio, or greater, family groups. Diagnostic pathogenic variants were identified in 35% (25 of 71) of patients. Potentially pathogenic variants were identified in clinically relevant genes in a further 7% (5 of 71) of cases, giving a total yield of clinical diagnoses in 42% of individuals. These findings provide evidence that WES can substantially decrease the number of unresolved white matter cases. Ann Neurol 2016;79:1031–1037
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“Nevertheless, the percentage of leukodystrophy cases without a specific diagnosis has been estimated to be 20–30% [7,39,40].”
From Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1 (2023) · cites this paper as [7]
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“NGS genetic testing, including gene panel testing, WES, or whole genome sequencing (WGS), is the most successful approach for diagnosing rare diseases with the highest diagnostic yield [7,37].”
From Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1 (2023) · cites this paper as [7]
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“Genetic screening using next-generation sequencing (NGS) is the most successful approach with the highest diagnostic yield in cases of underlying genetic disorders, such as CALD, and provides the fastest results [7,8].”
From Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1 (2023) · cites this paper as [7]
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“Trio-WES has substantially increased the number of known leukodystrophies and improved diagnoses [7,8,39].”
From Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1 (2023) · cites this paper as [7]
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“Previously, we reported on a cohort of 191 families with a suspected leukodystrophy, of which 71 were persistently unsolved despite targeted molecular and enzymatic testing and 19 were lost to follow‐up.1”
From Genome sequencing in persistently unsolved white matter disorders (2020) · cites this paper as [1]
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“Trio‐or‐greater exome sequencing analysis resolved 42% (30/71) of unsolved cases, which, in combination with standard of care approaches, yielded a 77% overall diagnostic rate from 172 families available for testing.”
From Genome sequencing in persistently unsolved white matter disorders (2020) · cites this paper as [1]
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“Thirty cases were solved by exome sequencing,1 and in this study, genome sequencing established a diagnosis in an additional 14 families yielding a 20% improvement, and an overall diagnostic efficacy of NGS of genome or exome sequencing increased to 44/71 (62%) and in total resolution of 145/172 (84%) of the original testable cohort.”
From Genome sequencing in persistently unsolved white matter disorders (2020) · cites this paper as [1]
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“The duplication was previously undetected by exome sequencing due to a lack of coverage as it lies in the middle of a 110 nucleotide block of a ~ 95% GC‐rich region (Fig. 1B).1”
From Genome sequencing in persistently unsolved white matter disorders (2020) · cites this paper as [1]
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“Stringent variant filtering performed during the prior exome sequencing analysis excluded this intronic variant and precluded a diagnosis.1”
From Genome sequencing in persistently unsolved white matter disorders (2020) · cites this paper as [1]
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Metadata
- Authors
- Vanderver, A., Simons, C., Helman, G., Crawford, J., Wolf, N. I., Bernard, G., Pizzino, A., Schmidt, J. L., Takanohashi, A., Miller, D., Khouzam, A., Rajan, V., Ramos, E., Chowdhury, S., Hambuch, T., Ru, K., Baillie, G. J., Grimmond, S. M., Caldovic, L., Devaney, J., Bloom, M., Evans, S. H., Murphy, J. L. P., McNeill, N., Fogel, B. L., the Leukodystrophy Study Group, Schiffmann, R., van der Knaap, M. S., & Taft, R. J.
- Affiliations
- Children's National (US)
- The University of Queensland (AU)
- Amsterdam Neuroscience (NL)
- Montreal Children's Hospital (CA)
- Illumina (United States) (US)
- Institute for Metabolic Disease Baylor Research Institute Dallas TX
- University of California, Los Angeles (US)
- Corresponding author
- Vanderver, Adeline
- Simons, Cas
- ORCID
- Vanderver, Adeline
- Simons, Cas
- Helman, Guy
- Crawford, Joanna
- Wolf, Nicole I.
- Bernard, Geneviève
- Pizzino, Amy
- Schmidt, Johanna L.
- Takanohashi, Asako
- Ramos, Erica
- Chowdhury, Shimul
- Hambuch, Tina
- Baillie, Gregory J.
- Grimmond, Sean M.
- Caldovic, Ljubica
- Devaney, Joseph
- Evans, Sarah H.
- Murphy, Jennifer L. P.
- McNeill, Nathan
- Fogel, Brent L.
- Schiffmann, Raphael
- van der Knaap, Marjo S.
- Taft, Ryan J.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2016-05-09
- Volume
- 79
- Issue
- 6
- Pages
- 1031-1037
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- PMC
- PMC5354169
- OpenAlex
- W2346093359
- Cited by
- 145
- References
- 36
- Citations by year
- 2026: 4 · 2025: 9 · 2024: 12 · 2023: 17 · 2022: 13 · 2021: 21 · 2020: 16 · 2019: 17 · 2018: 22 · 2017: 11 · 2016: 2
- FWCI
- 14.00
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Licence
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Minerva Access (University of Melbourne) (submittedVersion)
- Funders
- Santé
- Australian Research Council
- National Health and Medical Research Council (APP1068278)
- ZonMw (91211005)
- National Institute of Mental Health (K08MH086297)
- National Institute of Neurological Disorders and Stroke (R01NS082094)
- National Center for Advancing Translational Sciences (UL1TR000075)
- Myelin Project
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- white matter abnormalities, leukodystrophy, pathogenic variants, trio exome sequencing, genetic diagnosis, hereditary leukodystrophy
- MeSH terms
- Adolescent, Adult, Child, Child, Preschool, DNA Mutational Analysis, Female, Humans, Male, Mutation, Young Adult, Leukoencephalopathies, Exome, White Matter
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