ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Pooled it
- Behavioral and transcriptomic markers of susceptibility to escalate fentanyl intake.Translational psychiatry · 2026Article
- Mono-ubiquitination of histone H2A lysine 119 (H2AK119Ub): its multifaceted role in biology and implication in diseases.MedScience · 2026Review
- Neurod2 knockdown inmicroPublication biology · 2026Article
- Review
- Homozygous variant in JARID2 causes female infertility characterized by compromised blastulation efficiency.Journal of ovarian research · 2025Article
- MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.American journal of human genetics · 2024Article
- Knockout mice with pituitary malformations help identify human cases of hypopituitarism.Genome medicine · 2024Article
- KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders.Cell stem cell · 2024Article
- RENGE infers gene regulatory networks using time-series single-cell RNA-seq data with CRISPR perturbations.Communications biology · 2023Article
- Functional Insight into and Refinement of the Genomic Boundaries of theInternational journal of molecular sciences · 2023Article
- Jarid2 promotes temporal progression of retinal progenitors via repression of Foxp1.Cell reports · 2023Article
- The role of histone methyltransferases in neurocognitive disorders associated with brain size abnormalities.Frontiers in neuroscience · 2023Review
- A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype.Molecular genetics & genomic medicine · 2022Article
- DNA Methylation Signature forInternational journal of molecular sciences · 2022Article
- Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.American journal of medical genetics. Part A · 2022Article
Corrections and comments
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Authors and funding
40 authors at 20 institutions in 8 countries.
Funding
Abstract
purposeJARID2, located on chromosome 6p22.3, is a regulator of histone methyltransferase complexes that is expressed in human neurons. So far, 13 individuals sharing clinical features including intellectual disability (ID) were reported with de novo heterozygous deletions in 6p22-p24 encompassing the full length JARID2 gene (OMIM 601594). However, all published individuals to date have a deletion of at least one other adjoining gene, making it difficult to determine if JARID2 is the critical gene responsible for the shared features. We aim to confirm JARID2 as a human disease gene and further elucidate the associated clinical phenotype.
methodsChromosome microarray analysis, exome sequencing, and an online matching platform (GeneMatcher) were used to identify individuals with single-nucleotide variants or deletions involving JARID2.
resultsWe report 16 individuals in 15 families with a deletion or single-nucleotide variant in JARID2. Several of these variants are likely to result in haploinsufficiency due to nonsense-mediated messenger RNA (mRNA) decay. All individuals have developmental delay and/or ID and share some overlapping clinical characteristics such as facial features with those who have larger deletions involving JARID2.
conclusionWe report that JARID2 haploinsufficiency leads to a clinically distinct neurodevelopmental syndrome, thus establishing gene-disease validity for the purpose of diagnostic reporting.
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Registered trials
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.