ArticleHuman genetics2022
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Open access · greenAbstract read
In one paragraph
Article in Human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
4.3field-weighted citation impact, top 5% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 36 citations in OpenAlex.
- The genetics of obesity: aetiology, prevention and therapy.Nature metabolism · 2026Review
- 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
- Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.Scientific reports · 2026Article
- Severe obesity as an oligogenic condition: evidence from 1714 adults seeking treatment in the UK National Health Service.Human genomics · 2025Article
- Neurobehavioral Profiles and Clinical Consequences ofmedRxiv : the preprint server for health sciences · 2025Article
- A survey of hypothalamic phenotypes identifies molecular and behavioral consequences of MYT1L haploinsufficiency in male and female mice.Hormones and behavior · 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
- Chromosomal and gonadal sex have differing effects on social motivation in mice.Biology of sex differences · 2025Article
- Lifespan in rodents with MYT1L heterozygous mutation.Scientific reports · 2025Article
- Lifespan in rodents with MYT1L heterozygous mutation.Research square · 2024Article
- Chromosomal Microarray in Children Born Small for Gestational Age - Single Center Experience.Balkan journal of medical genetics : BJMG · 2024Article
- Chromosomal and gonadal sex have differing effects on social motivation in mice.bioRxiv : the preprint server for biology · 2024Article
- SKI Regulates Medullary Thymic Epithelial Cell Differentiation to Control Peripheral T Cell Responses in Mice.Journal of immunology (Baltimore, Md. : 1950) · 2024Article
- A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.Current obesity reports · 2024Review
- 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
- Current Treatments for Patients with Genetic ObesityJournal of clinical research in pediatric endocrinology · 2023Review
- Overexpression ofCurrent issues in molecular biology · 2023Article
- MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention.Molecular psychiatry · 2023Article
- MYT1L is required for suppressing earlier neuronal development programs in the adult mouse brain.Genome research · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
70 authors at 20 institutions in 4 countries.
Juliette CoursimaultDepartment of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France.
Anne-Marie GuerrotDepartment of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France.
Michelle M MorrowGeneDx, Gaithersburg, 20877 MD, USA.
Catherine SchrammDepartment of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France.
Francisca Millan ZamoraGeneDx, Gaithersburg, 20877 MD, USA.
Anita ShanmughamGeneDx, Gaithersburg, 20877 MD, USA.
Shuxi LiuGeneDx, Gaithersburg, 20877 MD, USA.
Fanggeng ZouGeneDx, Gaithersburg, 20877 MD, USA.
Frédéric BilanService de Génétique, Centre Hospitalier Universitaire de Poitiers, BP577, 86021, Poitiers, France.
Gwenaël Le GuyaderService de Génétique, Centre Hospitalier Universitaire de Poitiers, BP577, 86021, Poitiers, France.
Ange-Line BruelUMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.
Anne-Sophie Denommé-PichonUMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.
Laurence FaivreUMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.
Frédéric Tran Mau-ThemUMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.
Marine TessarechService de Génétique Médicale, CHU d'Angers, Angers, France.
Estelle ColinService de Génétique Médicale, CHU d'Angers, Angers, France.
Salima El ChehadehService de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.
Bénédicte GérardService de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.
Elise SchaeferService de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.
Benjamin CogneService de Génétique Médicale, CHU Nantes, Nantes, France.
Bertrand IsidorService de Génétique Médicale, CHU Nantes, Nantes, France.
Mathilde NizonService de Génétique Médicale, CHU Nantes, Nantes, France.
Diane DoummarHôpital Trousseau, APHP.Sorbonne Université, Service de Neuropédiatrie, Paris, France.
Stéphanie ValenceHôpital Trousseau, APHP.Sorbonne Université, Service de Neuropédiatrie, Paris, France.
Delphine HéronDépartement de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP.Sorbonne Université, Paris, France.
Boris KerenDépartement de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP.Sorbonne Université, Paris, France.
Cyril MignotDépartement de Génétique, Groupe Hospitalier Pitié-Salpêtrière-Hôpital Trousseau Centre de Référence Déficiences Intellectuelles de Causes Rares, APHP.Sorbonne Université, Paris, France.
Charles CouttonGenetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, UMR 5309, CNRS, Université Grenoble Alpes, Inserm U1209, Grenoble, France.
Françoise DevillardService de Génétique et Procréation, CHU Grenoble Alpes, Grenoble, France.
Anne-Sophie AlaixDepartment of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France.
Jeanne AmielDepartment of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France.
Laurence ColleauxDepartment of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France.
Arnold MunnichDepartment of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France.
Karine PoirierDepartment of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France.
Marlène RioDepartment of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France.
Sophie RondeauDepartment of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France.
Giulia BarciaDepartment of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France.
Bert CallewaertCenter for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium.
Annelies DheedeneCenter for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium.
Candy KumpsCenter for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium.
Sarah VergultCenter for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium.
Björn MentenCenter for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium.
Wendy K ChungColumbia University Irving Medical Center, New York, NY, USA.
Rebecca HernanColumbia University Irving Medical Center, New York, NY, USA.
Austin LarsonSchool of Medicine and Children's Hospital, University of Colorado, Aurora, CO, USA.
Kelly NoriSchool of Medicine and Children's Hospital, University of Colorado, Aurora, CO, USA.
Sarah StewartSchool of Medicine and Children's Hospital, University of Colorado, Aurora, CO, USA.
James WhelessDivision of Pediatric Neurology, University of Tennessee, Health Science Center, Memphis, USA.
Christina KresgeDivision of Clinical Genetics, Rutgers New Jersey Medical School, Newark, USA.
Beth A PletcherDivision of Clinical Genetics, Rutgers New Jersey Medical School, Newark, USA.
Roseline CaumesUniversité de Lille, CHU de Lille, Clinique de Génétique « Guy Fontaine », EA7364 RADEMEF-59000, Lille, France.
Thomas SmolUniversité de Lille, CHU de Lille, Institut de Génétique Médicale, EA7364 RADEMEF-59000, Lille, France.
Sabine SigaudyDépartement de Génétique Médicale, Hôpital Timone Enfant, Marseille, France.
Christine CoubesDépartement de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU Montpellier, Montpellier, France.
Margaret HelmDepartment of Pediatrics, Division of Genetics. Portland, Maine Medical Center, Maine, USA.
Rosemarie SmithDepartment of Pediatrics, Division of Genetics. Portland, Maine Medical Center, Maine, USA.
Jennifer MorrisonArnold Palmer Hospital, Orlando Health, Orlando, FL, USA.
Patricia G WheelerArnold Palmer Hospital, Orlando Health, Orlando, FL, USA.
Amy KritzerDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.
Guillaume JouretNational Center of Genetics (NCG), Laboratoire National de Santé (LNS), L-3555, Dudelange, Luxembourg.
Alexandra AfenjarCentre de Référence Malformations et Maladies Congénitales du Cervelet et Déficiences Intellectuelles de Causes Rares, Département de Génétique et Embryologie Médicale, APHP. Sorbonne Université, Hôpital Trousseau, 75012, Paris, France.
Jean-François DeleuzeCentre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, 91057, Evry, France.
Robert OlasoCentre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, 91057, Evry, France.
Anne BolandCentre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, 91057, Evry, France.
Christine PoitouService de Nutrition, Hôpital de la Pitié Salpêtrière - AP-HP, Paris, France.
Thierry FrebourgDepartment of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France.
Claude HoudayerDepartment of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France.
Pascale Saugier-VeberDepartment of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France.
Gaël NicolasDepartment of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France.
François LecoquierreDepartment of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France. francois.lecoquierre@chu-rouen.fr.ORCID http://orcid.org/0000-0002-9110-1856
Inserm · FRUniversité Paris Cité · FRSorbonne Université · FRGhent University Hospital · BEChildren's Hospital Colorado · USCommissariat à l'Énergie Atomique et aux Énergies Alternatives · FRGénétique Médicale & Génomique Fonctionelle · FRHôpitaux Universitaires de Strasbourg · FRCentre Hospitalier Universitaire de Poitiers · FRCentre National de la Recherche Scientifique · FRColumbia University Irving Medical Center · USMaine Medical Center · USOrlando Health · USRutgers, The State University of New Jersey · USUniversité de Lille · FRBoston Children's Hospital · USCentre Hospitalier Universitaire d'Angers · FRCentre Hospitalier Universitaire de Grenoble · FRHôpital de la Timone · FRLaboratoire National de Santé · LU
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo mutations in several developmental disorders and autism studies, the data on clinical characteristics and genotype-phenotype correlations are scarce, with only 22 patients with single nucleotide pathogenic variants reported. We aimed to further characterize this disorder at both the clinical and molecular levels by gathering a large series of patients with MYT1L-associated neurodevelopmental disorder. We collected genetic information on 40 unreported patients with likely pathogenic/pathogenic MYT1L variants and performed a comprehensive review of published data (total = 62 patients). We confirm that the main phenotypic features of the MYT1L-related disorder are developmental delay with language delay (95%), intellectual disability (ID, 70%), overweight or obesity (58%), behavioral disorders (98%) and epilepsy (23%). We highlight novel clinical characteristics, such as learning disabilities without ID (30%) and feeding difficulties during infancy (18%). We further describe the varied dysmorphic features (67%) and present the changes in weight over time of 27 patients. We show that patients harboring highly clustered missense variants in the 2-3-ZNF domains are not clinically distinguishable from patients with truncating variants. We provide an updated overview of clinical and genetic data of the MYT1L-associated neurodevelopmental disorder, hence improving diagnosis and clinical management of these patients.
Indexed as
Genetic VariationAdolescentAdultChildChild, PreschoolEpilepsyFeeding and Eating DisordersFemaleGenetic Association StudiesHeterozygoteHumansInfantLanguage Development DisordersMaleNerve Tissue ProteinsNeurodevelopmental DisordersMYT1L protein, humanNerve Tissue ProteinsTranscription Factors
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
None linked
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.