Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
Open accessAbstract
We have identified and characterized two unrelated patients with prenatal onset of microcephaly, intrauterine growth retardation, feeding problems, developmental delay, and febrile seizures/epilepsy who both carry a de novo balanced translocation that truncates the DYRK1A gene at chromosome 21q22.2. DYRK1A belongs to the dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family, which is highly conserved throughout evolution. Given its localization in both the Down syndrome critical region and in the minimal region for partial monosomy 21, the gene has been studied intensively in animals and in humans, and DYRK1A has been proposed to be involved in the neurodevelopmental alterations associated with these syndromes. In the present study, we show that truncating mutations of DYRK1A result in a clinical phenotype including microcephaly.
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DYRK1A has three truncating mutations in autism probands and de novo structural variants in ID probands.
“Another striking candidate is DYRK1A (dual-specificity tyrosine phosphorylation-regulated kinase 1A), for which three truncating mutations have been discovered in autism probands [24,44] and de novo structural variants in ID probands [54,55].”
From A de novo convergence of autism genetics and molecular neuroscience (2014) · cites this paper as [55]
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References 28 · Cited by 163
- Authors
- Møller, R. S., Kübart, S., Hoeltzenbein, M., Heye, B., Vogel, I., Hansen, C. P., Menzel, C., Ullmann, R., Tommerup, N., Ropers, H.-H., Tümer, Z., & Kalscheuer, V. M.
- Affiliations
- University of Copenhagen (DK)
- Max Planck Institute for Molecular Genetics (DE)
- Ludwig-Maximilians-Universität München (DE)
- Aarhus University Hospital (DK)
- Corresponding author
- Tümer, Zeynep
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2008-05
- Volume
- 82
- Issue
- 5
- Pages
- 1165-1170
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC2427221
- OpenAlex
- W2063811379
- Cited by
- 163
- References
- 28
- Citations by year
- 2026: 5 · 2025: 2 · 2024: 8 · 2023: 6 · 2022: 8 · 2021: 9 · 2020: 5 · 2019: 6 · 2018: 13 · 2017: 12 · 2016: 8 · 2015: 17 · 2014: 14 · 2013: 12 · 2012: 12
- FWCI
- 8.57
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Max Planck Institute for Plasma Physics (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- University of Southern Denmark Research Portal (University of Southern Denmark) (submittedVersion, other-oa)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- 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
- Keywords
- DYRK1A, microcephaly, de novo balanced translocation, gene truncation, Down syndrome critical region, fetal growth restriction, developmental delay, febrile seizures, epilepsy, neurodevelopmental disorders, prenatal onset
- MeSH terms
- Dyrk Kinases, Child, Chromosomes, Human, Pair 21, Down Syndrome, Humans, Infant, Male, Microcephaly, Mutation, Phenotype, Protein-Tyrosine Kinases, Protein Serine-Threonine Kinases, Genetic Predisposition to Disease
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