Cited by 106Down syndrome and intellectual disability researchGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

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Bronicki, Lucas M, Redin, Claire, Drunat, Severine, Piton, Amélie, Lyons, Michael, Passemard, Sandrine, Baumann, Clarisse, Faivre, Laurence, Thevenon, Julien, Rivière, Jean-Baptiste, Isidor, Bertrand, Gan, Grace, Francannet, Christine, Willems, Marjolaine, Gunel, Murat, Jones, Julie R, Gleeson, Joseph G, Mandel, Jean-Louis, Stevenson, Roger E, Friez, Michael J, Aylsworth, Arthur S·2015·European Journal of Human Genetics

DOI 10.1038/ejhg.2015.29PMC PMC4613470

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Abstract

The dual-specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) gene, located on chromosome 21q22.13 within the Down syndrome critical region, has been implicated in syndromic intellectual disability associated with Down syndrome and autism. DYRK1A has a critical role in brain growth and development primarily by regulating cell proliferation, neurogenesis, neuronal plasticity and survival. Several patients have been reported with chromosome 21 aberrations such as partial monosomy, involving multiple genes including DYRK1A. In addition, seven other individuals have been described with chromosomal rearrangements, intragenic deletions or truncating mutations that disrupt specifically DYRK1A. Most of these patients have microcephaly and all have significant intellectual disability. In the present study, we report 10 unrelated individuals with DYRK1A-associated intellectual disability (ID) who display a recurrent pattern of clinical manifestations including primary or acquired microcephaly, ID ranging from mild to severe, speech delay or absence, seizures, autism, motor delay, deep-set eyes, poor feeding and poor weight gain. We identified unique truncating and non-synonymous mutations (three nonsense, four frameshift and two missense) in DYRK1A in nine patients and a large chromosomal deletion that encompassed DYRK1A in one patient. On the basis of increasing identification of mutations in DYRK1A, we suggest that this gene be considered potentially causative in patients presenting with ID, primary or acquired microcephaly, feeding problems and absent or delayed speech with or without seizures.

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Epigraph
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Preface to the Fifth Edition
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Dedication
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Copyright Page
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Determining 95 Percent Confidence Limits, and the Standard Error
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Authors: Bronicki, L. M., Redin, C., Drunat, S., Piton, A., Lyons, M., Passemard, S., Baumann, C., Faivre, L., Thevenon, J., Rivière, J.-B., Isidor, B., Gan, G., Francannet, C., Willems, M., Gunel, M., Jones, J. R., Gleeson, J. G., Mandel, J.-L., Stevenson, R. E., Friez, M. J., & Aylsworth, A. S.
Affiliations: Greenwood Genetic Center (US)
Centre National de la Recherche Scientifique (FR)
Inserm (FR)
Hôpital Robert-Debré (FR)
Université de Bourgogne (FR)
Centre Hospitalier Universitaire de Nantes (FR)
Centre Hospitalier Universitaire de Clermont-Ferrand (FR)
Hôpital Arnaud de Villeneuve (FR)
Howard Hughes Medical Institute (US)
University of North Carolina at Chapel Hill (US)
Corresponding author: Bronicki, Lucas M
ORCID: Piton, Amélie
Lyons, Michael
Passemard, Sandrine
Faivre, Laurence
Thevenon, Julien
Rivière, Jean-Baptiste
Isidor, Bertrand
Willems, Marjolaine
Jones, Julie R
Gleeson, Joseph G
Mandel, Jean-Louis
Venue: European Journal of Human Genetics
Publisher: Springer Science and Business Media LLC
Published: 2015-04-29
Volume: 23
Issue: 11
Pages: 1482-1487
ISSN: 1018-4813 (ISSN-L)
1476-5438
DOI: 10.1038/ejhg.2015.29
PMC: PMC4613470
OpenAlex: W2152762793
Semantic Scholar: 1b2b564920def54276f14fc014a0e4f850e79f19
Cited by: 105
References: 56
Citations by year: 2026: 4 · 2025: 8 · 2024: 7 · 2023: 10 · 2022: 5 · 2021: 4 · 2020: 4 · 2019: 7 · 2018: 38 · 2017: 9 · 2016: 6 · 2015: 3
FWCI: 19.95
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.springer.com/tdm (tdm)
Locations: European Journal of Human Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
HAL (submittedVersion)
Funders: Greenwood Genetic Center Foundation
National Heart, Lung, and Blood Institute
Topics: Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: DYRK1A, syndromic intellectual disability, Down syndrome critical region, microcephaly, truncating mutations, frameshift mutation, nonsense mutation, missense mutations, chromosomal deletion, autism spectrum disorder, speech delay, seizures, feeding difficulties, genotype-phenotype correlation
MeSH terms: Dyrk Kinases, Adolescent, Adult, Autistic Disorder, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 21, Down Syndrome, Female, Humans, Male, Intellectual Disability, Microcephaly, Mutation, Phenotype, Protein-Tyrosine Kinases, Protein Serine-Threonine Kinases

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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

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