ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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37 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2020Pooled it
- A Novel Variant in the MYT1L Gene Shared by Three Individuals with Neuropsychiatric and Neurodevelopmental Manifestations in a Family.Indian journal of psychological medicine · 2026Article
- Neurobehavioral Profiles and Clinical Consequences ofmedRxiv : the preprint server for health sciences · 2025Article
- A Positive Feedback DNA-PK/MYT1L-CXCR1-ERK1/2 Proliferative Signaling Loop in Glioblastoma.International journal of molecular sciences · 2025Article
- Stimulus-Dependent Expression ofThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Autism- and intellectual disability-associated MYT1L mutation alters human cortical interneuron differentiation, maturation, and physiology.Stem cell reports · 2025Article
- Lifespan in rodents with MYT1L heterozygous mutation.Scientific reports · 2025Article
- Article
- Lifespan in rodents with MYT1L heterozygous mutation.Research square · 2024Article
- Insights and applications of direct neuronal reprogramming.Current opinion in genetics & development · 2023Review
- Article
- 2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.European journal of human genetics : EJHG · 2023Review
- MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention.Molecular psychiatry · 2023Article
- Article
- Myt1l haploinsufficiency leads to obesity and multifaceted behavioral alterations in mice.Molecular autism · 2022Article
- A Japanese patient with a 2p25.3 terminal deletion presented with early-onset obesity, intellectual disability and diabetes mellitus: A case report.Journal of diabetes investigation · 2022Article
- MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.Human genetics · 2022Article
- Article
- Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy.Frontiers in medicine · 2021Article
- Fetal Cystic Hygroma Associated with Terminal 2p25.1 Duplication and Terminal 3p25.3 Deletion: Cytogenetic, FluorescentBalkan journal of medical genetics : BJMG · 2020Article
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Authors and funding
36 authors at 15 institutions in 10 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeSubmicroscopic deletions of chromosome band 2p25.3 are associated with intellectual disability and/or central obesity. Although MYT1L is believed to be a critical gene responsible for intellectual disability, so far no unequivocal data have confirmed this hypothesis.
methodsIn this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. In addition, myt1l spatiotemporal expression in zebrafish embryos was analyzed by quantitative polymerase chain reaction and whole-mount in situ hybridization.
resultsComplete MYT1L deletion, intragenic deletion, or duplication was observed in all sporadic patients, in addition to two patients with a de novo point mutation in MYT1L. The familial cases comprise a 6-Mb deletion in a father and his three children and a 5' MYT1L overlapping duplication in a father and his two children. Expression analysis in zebrafish embryos shows specific myt1l expression in the developing brain.
conclusionOur data strongly strengthen the hypothesis that MYT1L is the causal gene for the observed syndromal intellectual disability. Moreover, because 17 patients present with obesity/overweight, haploinsufficiency of MYT1L might predispose to weight problems with childhood onset.Genet Med 17 6, 460-466.
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