ArticleMolecular syndromology2010
Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.
Article in Molecular syndromology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- Over-expression of Dyrk1A affects bleeding by modulating plasma fibronectin and fibrinogen level in mice.Journal of cellular and molecular medicine · 2023Article
- ATranslational pediatrics · 2021Article
- Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.Human genetics · 2021Article
- Ocular Phenotype Associated withGenes · 2021Article
- DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.Molecular genetics & genomic medicine · 2020Review
- Psychiatric Disorders and Distal 21q Deletion-A Case Report.International journal of environmental research and public health · 2020Article
- Article
- Abnormalities of DYRK1A-Cytoskeleton Complexes in the Blood Cells as Potential Biomarkers of Alzheimer's Disease.Journal of Alzheimer's disease : JAD · 2019Article
- DYRK1A Protein, A Promising Therapeutic Target to Improve Cognitive Deficits in Down Syndrome.Brain sciences · 2018Review
- Correction of cognitive deficits in mouse models of Down syndrome by a pharmacological inhibitor of DYRK1A.Disease models & mechanisms · 2018Article
- Clinical phenotype of ASD-associatedMolecular autism · 2017Article
- Combined immunodeficiency in a patient with mosaic monosomy 21.Immunologic research · 2016Article
- Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report.Journal of medical case reports · 2016Article
- Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.BMC medical genetics · 2016Review
- DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.European journal of human genetics : EJHG · 2015Article
- Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.European journal of human genetics : EJHG · 2015Article
- New Perspectives for the Rescue of Cognitive Disability in Down Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015Article
- New targets to treat obesity and the metabolic syndrome.European journal of pharmacology · 2015Review
- Dyrk1a haploinsufficiency induces diabetes in mice through decreased pancreatic beta cell mass.Diabetologia · 2014Article
- One-carbon cycle alterations induced by Dyrk1a dosage.Molecular genetics and metabolism reports · 2014Article
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Authors and funding
17 authors.
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Abstract
Partial monosomy 21 has been reported, but the phenotypes described are variable with location and size of the deletion. We present 2 patients with a partially overlapping microdeletion of 21q22 and a striking phenotypic resemblance. They both presented with severe psychomotor delay, behavioral problems, no speech, microcephaly, feeding problems with frequent regurgitation, idiopathic thrombocytopenia, obesity, deep set eyes, down turned corners of the mouth, dysplastic ears, and small chin. Brain MRI showed cerebral atrophy mostly evident in frontal and temporal lobes, widened ventricles and thin corpus callosum in both cases, and in one patient evidence of a migration disorder. The first patient also presented with epilepsy and a ventricular septum defect. The second patient had a unilateral Peters anomaly. Microarray analysis showed a partially overlapping microdeletion spanning about 2.5 Mb in the 21q22.1-q22.2 region including the DYRK1A gene and excluding RUNX1. These patients present with a recognizable phenotype specific for this 21q22.1-q22.2 locus. We searched the literature for patients with overlapping deletions including the DYRK1A gene, in order to define other genes responsible for this presentation.
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