ArticleEuropean journal of human genetics : EJHG2019
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 49 citations in OpenAlex.
- Article
- Molecular and cell type-specific determinants of inferior colliculus development and auditory function.bioRxiv : the preprint server for biology · 2026Article
- OGT mediates O-GlcNAcylation of MEIS2 and affects palatal osteogenic development.International journal of oral science · 2026Article
- Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.European journal of human genetics : EJHG · 2026Article
- A Retinoic Acid Autoregulatory Loop Governing Prefrontal-Motor Arealization.bioRxiv : the preprint server for biology · 2025Article
- Meis transcription factors regulate cardiac conduction system development and adult function.Cardiovascular research · 2025Article
- Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.BMC pediatrics · 2025Article
- Functional analysis ofFrontiers in genetics · 2025Article
- Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency.Scientific reports · 2024Article
- Molecular convergence of risk variants for congenital heart defects leveraging a regulatory map of the human fetal heart.medRxiv : the preprint server for health sciences · 2024Article
- Spatial enhancer activation influences inhibitory neuron identity during mouse embryonic development.Nature neuroscience · 2024Article
- The neuronal transcription factor MEIS2 is a calpain-2 protease target.Journal of cell science · 2024Article
- Human Genetics of Ventricular Septal Defect.Advances in experimental medicine and biology · 2024Article
- Cleft palate, congenital heart disease, and developmental delay involvingFrontiers in pediatrics · 2024Article
- Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.Genes · 2023Article
- Transcription factors in microcephaly.Frontiers in neuroscience · 2023Review
- The opportunities and challenges of usingFrontiers in physiology · 2023Article
- The autism-associated Meis2 gene is necessary for cardiac baroreflex regulation in mice.Scientific reports · 2022Article
- How "Neuronal" Are Human Skin Mast Cells?International journal of molecular sciences · 2022Review
- Dlx1/2-dependent expression of Meis2 promotes neuronal fate determination in the mammalian striatum.Development (Cambridge, England) · 2022Article
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Authors and funding
45 authors at 20 institutions in 11 countries.
Funding
Abstract
Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and congenital heart defects. The identification of patients with loss-of-function variants in MEIS2, a gene within this deletion, suggests that these features are attributed to haploinsufficiency of MEIS2. To further delineate the phenotypic spectrum of the MEIS2-related syndrome, we collected 23 previously unreported patients with either a de novo sequence variant in MEIS2 (9 patients), or a 15q14 microdeletion affecting MEIS2 (14 patients). All but one de novo MEIS2 variant were identified by whole-exome sequencing. One variant was found by targeted sequencing of MEIS2 in a girl with a clinical suspicion of this syndrome. In addition to the triad of palatal defects, heart defects, and developmental delay, heterozygous loss of MEIS2 results in recurrent facial features, including thin and arched eyebrows, short alae nasi, and thin vermillion. Genotype-phenotype comparison between patients with 15q14 deletions and patients with sequence variants or intragenic deletions within MEIS2, showed a higher prevalence of moderate-to-severe intellectual disability in the former group, advocating for an independent locus for psychomotor development neighboring MEIS2.
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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.