ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 37 citations in OpenAlex.
- The role of Goldilocks protein kinase DYRK1A in embryonic development.Developmental biology · 2025Review
- Autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility.Nature communications · 2025Article
- Review
- DYRK1A roles in human neural progenitors.Frontiers in neuroscience · 2025Article
- Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.Pediatric nephrology (Berlin, Germany) · 2024Article
- Dyrk1a is required for craniofacial development in Xenopus laevis.Developmental biology · 2024Article
- Toward clinical exomes in diagnostics and management of male infertility.American journal of human genetics · 2024Article
- Modelling human genetic disorders in Xenopus tropicalis.Disease models & mechanisms · 2024Review
- The Conserved Transcriptional Activation Activity Identified in Dual-Specificity Tyrosine-(Y)-Phosphorylation-Regulated Kinase 1.Biomolecules · 2023Article
- Insights from the protein interaction Universe of the multifunctional "Goldilocks" kinase DYRK1A.Frontiers in cell and developmental biology · 2023Review
- Genomics, convergent neuroscience and progress in understanding autism spectrum disorder.Nature reviews. Neuroscience · 2022Review
- Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant.Human genome variation · 2021Article
- Article
- Xenopus leads the way: Frogs as a pioneering model to understand the human brain.Genesis (New York, N.Y. : 2000) · 2021Review
- Aquatic models of human ciliary diseases.Genesis (New York, N.Y. : 2000) · 2021Review
- DYRK1A: a down syndrome-related dual protein kinase with a versatile role in tumorigenesis.Cellular and molecular life sciences : CMLS · 2021Review
- Male infertility and genitourinary birth defects: there is more than meets the eye.Fertility and sterility · 2020Review
- The neurodevelopmental disorder risk geneDevelopment (Cambridge, England) · 2020Article
Corrections and comments
- Erratum issued
Authors and funding
29 authors at 16 institutions in 4 countries.
Funding
Abstract
purposeHaploinsufficiency of DYRK1A causes a recognizable clinical syndrome. The goal of this paper is to investigate congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) in patients with DYRK1A variants.
methodsA large database of clinical exome sequencing (ES) was queried for de novo DYRK1A variants and CAKUT/GD phenotypes were characterized. Xenopus laevis (frog) was chosen as a model organism to assess Dyrk1a's role in renal development.
resultsPhenotypic details and variants of 19 patients were compiled after an initial observation that one patient with a de novo pathogenic variant in DYRK1A had GD. CAKUT/GD data were available from 15 patients, 11 of whom presented with CAKUT/GD. Studies in Xenopus embryos demonstrated that knockdown of Dyrk1a, which is expressed in forming nephrons, disrupts the development of segments of embryonic nephrons, which ultimately give rise to the entire genitourinary (GU) tract. These defects could be rescued by coinjecting wild-type human DYRK1A RNA, but not with DYRK1A
conclusionEvidence supports routine GU screening of all individuals with de novo DYRK1A pathogenic variants to ensure optimized clinical management. Collectively, the reported clinical data and loss-of-function studies in Xenopus substantiate a novel role for DYRK1A in GU development.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.