ArticleEuropean journal of human genetics : EJHG2014
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02980302 (Development of the Tool " iPSC "), which is not on this map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Development of the Tool " iPSC " (Induced Pluripotent Stem Cells) for the Functional Study of Mutations Responsible for Mental Retardation - Application to Familial Study of MYT1L Gene Mutations
Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 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
- Neurobehavioral Profiles and Clinical Consequences ofmedRxiv : the preprint server for health sciences · 2025Article
- 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
- Transmission of a Novel Imprinting Center Deletion Associated With Prader-Willi Syndrome Through Three Generations of a Chinese Family: Case Presentation, Differential Diagnosis, and a Lesson Worth Thinking About.Frontiers in genetics · 2021Article
- Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report.Experimental and therapeutic medicine · 2019Article
- Adverse Childhood Experiences, Epigenetic Measures, and Obesity in Youth.The Journal of pediatrics · 2018Article
- Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.Molecular cytogenetics · 2018Article
- Associations of the Intellectual Disability Gene MYT1L with Helix-Loop-Helix Gene Expression, Hippocampus Volume and Hippocampus Activation During Memory Retrieval.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2017Article
- MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.PLoS genetics · 2017Article
- Understanding the Role of lncRNAs in Nervous System Development.Advances in experimental medicine and biology · 2017Review
- Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome.Annals of pediatric endocrinology & metabolism · 2016Review
- A Primate lncRNA Mediates Notch Signaling during Neuronal Development by Sequestering miRNA.Neuron · 2016Article
- Rare Genetic Forms of Obesity: Clinical Approach and Current Treatments in 2016.Obesity facts · 2016Article
- Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.European journal of human genetics : EJHG · 2015Article
- Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity.Molecular syndromology · 2015Article
- Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
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Authors and funding
24 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Obesity is a common but highly, clinically, and genetically heterogeneous disease. Deletion of the terminal region of the short arm of chromosome 2 is rare and has been reported in about 13 patients in the literature often associated with a Prader-Willi-like phenotype. We report on five unrelated patients with 2p25 deletion of paternal origin presenting with early-onset obesity, hyperphagia, intellectual deficiency, and behavioural difficulties. Among these patients, three had de novo pure 2pter deletions, one presented with a paternal derivative der(2)t(2;15)(p25.3;q26) with deletion in the 2pter region and the last patient presented with an interstitial 2p25 deletion. The size of the deletions was characterized by SNP array or array-CGH and was confirmed by fluorescence in situ hybridization (FISH) studies. Four patients shared a 2p25.3 deletion with a minimal critical region estimated at 1.97 Mb and encompassing seven genes, namely SH3HYL1, ACP1, TMEMI8, SNTG2, TPO, PXDN, and MYT1L genes. The fifth patient had a smaller interstitial deletion encompassing the TPO, PXDN, and MYT1L genes. Paternal origin of the deletion was determined by genotyping using microsatellite markers. Analysis of the genes encompassed in the deleted region led us to speculate that the ACP1, TMEM18, and/or MYT1L genes might be involved in early-onset obesity. In addition, intellectual deficiency and behavioural troubles can be explained by the heterozygous loss of the SNTG2 and MYT1L genes. Finally, we discuss the parent-of-origin of the deletion.
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