Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder
Abstract
Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel AC, Prasad A, Pinto D, Joseph-George AM, Noakes C, Fairbrother-Davies C, Roberts W, Vincent J, Weksberg R, Scherer SW. Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. We describe the identification and clinical presentation of four individuals from three unrelated families with hemizygous deletions involving the DPYD gene at chromosome 1p21.3. DPYD encodes dihydropyrimidine dehydrogenase, which is the initial and rate-limiting enzyme in the catabolism of pyrimidine bases. All four individuals described met diagnostic criteria for autism spectrum disorder with severe speech delay. Patient 1's deletion was originally reported in 2008, and more detailed clinical information is provided. Subsequently, this male individual was found to have a missense mutation in the X-linked PTCHD1 autism susceptibility gene, which may also contribute to the phenotype. Patients 2 and 3 are siblings with a novel deletion encompassing the DPYD gene. In their mother, the genomic region deleted from chromosome 1p21.3 was inserted into chromosome 10. A fourth proband had a novel 10-kb intragenic deletion of exon 6 of the DPYD gene detected on a higher resolution microarray. Our study suggests that hemizygous deletions involving the DPYD locus present with variable phenotypes which can include speech delay and autistic features, and may also be influenced by additional mutations in other genes, issues which need to be considered in genetic counseling.
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Microdeletions of miR137 have been reported in ASD, ID, and schizophrenia.
“Microdeletions of miR137 have been reported in ASD,39 ID,40 and schizophrenia.41”
From Convergence of genes and cellular pathways dysregulated in autism spectrum disorders (2014) · cites this paper as [39]
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Roos, J. L. (2019) · Genetiese bevindings in ‘n groep Afrikaners met skisofrenie · doi:10.4102/aosis.2019.bk135.02
Roos, J. L. (2019) · Genetiese bevindings in ‘n groep Afrikaners met skisofrenie · doi:10.4102/aosis.2019.bk135.08
Spesifieke chromosoomgebiede en/of kandidaatgene geïdentifiseer by skisofrenie
Roos, J. L. (2019) · Genetiese bevindings in ‘n groep Afrikaners met skisofrenie · doi:10.4102/aosis.2019.bk135.03
Roos, J. L. (2019) · doi:10.4102/aosis.2019.bk135.05
Roos, J. L. (2019) · doi:10.4102/aosis.2019.bk135.06
Roos, J. L. (2019) · doi:10.4102/aosis.2019.bk135.04
Xu, S., Wang, J., Mao, K., Deling, J., Li, Z., Zhao, H., Sun, Y., Feng, J., Lai, Y., Peng, R., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26740391
Xu, S., Wang, J., Mao, K., Deling, J., Li, Z., Zhao, H., Sun, Y., Feng, J., Lai, Y., Peng, R., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26740385
Xu, S., Wang, J., Mao, K., Deling, J., Li, Z., Zhao, H., Sun, Y., Feng, J., Lai, Y., Peng, R., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26740397
Xu, S., Wang, J., Mao, K., Deling, J., Li, Z., Zhao, H., Sun, Y., Feng, J., Lai, Y., Peng, R., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26740388
Xu, S., Wang, J., Mao, K., Deling, J., Li, Z., Zhao, H., Sun, Y., Feng, J., Lai, Y., Peng, R., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26740406
Xu, S., Wang, J., Mao, K., Deling, J., Li, Z., Zhao, H., Sun, Y., Feng, J., Lai, Y., Peng, R., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26740403
Xu, S., Wang, J., Mao, K., Deling, J., Li, Z., Zhao, H., Sun, Y., Feng, J., Lai, Y., Peng, R., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26740394
Xu, S., Wang, J., Mao, K., Deling, J., Li, Z., Zhao, H., Sun, Y., Feng, J., Lai, Y., Peng, R., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26740400
Clinical and neurodevelopmental features of chromosome 1 copy number variations in children
Ülker, A. Y., Usluer, E., & Kaplan, İ. (2026) · Brain and Development · doi:10.1016/j.braindev.2026.104556
- Authors
- Carter, M., Nikkel, S., Fernandez, B., Marshall, C., Noor, A., Lionel, A., Prasad, A., Pinto, D., Joseph-George, A., Noakes, C., Fairbrother-Davies, C., Roberts, W., Vincent, J., Weksberg, R., & Scherer, S.
- Affiliations
- Holland Bloorview Kids Rehabilitation Hospital (CA)
- Centre for Addiction and Mental Health (CA)
- University of Toronto (CA)
- Hospital for Sick Children (CA)
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2010-11-29
- Volume
- 80
- Issue
- 5
- Pages
- 435-443
- ISSN
- 0009-9163 (ISSN-L)
- OpenAlex
- W2017131521
- Cited by
- 77
- References
- 21
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 9 · 2023: 3 · 2022: 2 · 2021: 8 · 2020: 2 · 2019: 11 · 2018: 7 · 2017: 4 · 2016: 6 · 2015: 4 · 2014: 4 · 2013: 6 · 2012: 4
- FWCI
- 2.52
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Canadian Institutes of Health Research
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- hemizygous deletion, dihydropyrimidine dehydrogenase, autism spectrum disorder, speech delay, chromosomal rearrangements, exon 6 deletion, variable phenotype, genetic counseling
- MeSH terms
- Adolescent, Adult, Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 10, Female, Humans, Male, Pedigree, Dihydrouracil Dehydrogenase (NADP)
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