Exome sequencing of two patients in a family with atypical X‐linked leukodystrophy
Abstract
Tsurusaki Y, Okamoto N, Suzuki Y, Doi H, Saitsu H, Miyake N, Matsumoto N. Exome sequencing of two patients in a family with atypical X‐linked leukodystrophy. We encountered a family with two boys similarly showing brain atrophy with reduced white matter, hypoplasia of the brain stem and corpus callosum, spastic paralysis, and severe growth and mental retardation without speaking a word. The phenotype of these patients was not compatible with any known type of syndromic leukodystrophy. Presuming an X‐linked disorder, we performed next‐generation sequencing (NGS) of the transcripts of the entire X chromosome. A single lane of exome NGS in each patient was sufficient. Six potential mutations were found in both affected boys. Two missense mutations, including c.92T>C (p.V31A) in L1CAM, were potentially pathogenic, but this remained inconclusive. The other four could be excluded. Because the patients did not show adducted thumbs or hydrocephalus, the L1CAM change in this family can be interpreted as different scenarios. Personal genome analysis using NGS is certainly powerful, but interpretation of the data can be a substantial challenge requiring a lot of tasks.
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White matter abnormalities are a rare association with L1CAM-related disorder.
“White matter abnormalities are a rare association with L1CAM‐related disorder.16”
From Genome sequencing in persistently unsolved white matter disorders (2020) · cites this paper as [16]
Affected individuals in families LD_0579 and LD_0587 had variants in genes previously implicated in neurologic syndromes where improvements to the analysis pipeline or improved phenotypic understanding permitted a diagnosis or prioritized a high confidence candidate, in L1CAM and KDM5C, respectively.
“Affected individuals in families LD_0579 and LD_0587 had variants in genes previously implicated in neurologic syndromes where improvements to our analysis pipeline or improved phenotypic understand permitted a diagnosis or prioritized a high confidence candidate, in L1CAM (OMIM:308840)16 and KDM5C (OMIM:314690),17 respectively.”
From Genome sequencing in persistently unsolved white matter disorders (2020) · cites this paper as [16]
Cites
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome
Miyake, N., Kosho, T., Mizumoto, S., Furuichi, T., Hatamochi, A., Nagashima, Y., Arai, E., Takahashi, K., Kawamura, R., Wakui, K., et al. (2010) · Human Mutation · doi:10.1002/humu.21300 · Cited by 156 · see citing works
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Genome sequencing in persistently unsolved white matter disorders
Helman, G., Lajoie, B. R., Crawford, J., Takanohashi, A., Walkiewicz, M., Dolzhenko, E., Gross, A. M., Gainullin, V. G., Bent, S. J., Jenkinson, E. M., et al. (2020) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.50957 · Cited by 39 · see citing works
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- Authors
- Tsurusaki, Y., Okamoto, N., Suzuki, Y., Doi, H., Saitsu, H., Miyake, N., & Matsumoto, N.
- Affiliations
- Yokohama City University (JP)
- Osaka Women's and Children's Hospital (JP)
- Corresponding author
- Matsumoto, N
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2011-06-21
- Volume
- 80
- Issue
- 2
- Pages
- 161-166
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W2088013366
- Cited by
- 9
- References
- 1
- Citations by year
- 2020: 1 · 2017: 1 · 2013: 2 · 2012: 5
- FWCI
- 1.40
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Japan Society for the Promotion of Science (23689052, 22790823)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- L1CAM, missense mutations, brain atrophy, corpus callosum hypoplasia, spastic paralysis, intellectual disability, growth retardation, X-linked disorders, variant interpretation
- MeSH terms
- Abnormalities, Multiple, Base Sequence, Brain Stem, Exons, Family, Humans, Hydrocephalus, Male, Intellectual Disability, Mutation, Pedigree, Genome, Human, Mutation, Missense, Neural Cell Adhesion Molecule L1, Genetic Diseases, X-Linked, Genes, X-Linked, Leukoencephalopathies, High-Throughput Nucleotide Sequencing, Agenesis of Corpus Callosum
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