ArticlePLoS genetics2017
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
Article in PLoS genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.
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Who cites it
51 citing papers in PubMed, 1 synthesis or guideline pooled it, 90 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
- Diabetes-associated MYT1 and ST18 genes regulate human beta cell insulin secretion and survival via other diabetes risk genes.Diabetologia · 2026Article
- Autosomal allelic inactivation at loci with variable replication timing and dosage sensitivity.eLife · 2026Article
- 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
- Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.Human genomics · 2026Article
- Spatially resolved molecular sex differences at single-cell resolution in the adult human ventromedial and arcuate hypothalamus.Cell 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
- Article
- 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
- A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.Current obesity reports · 2024Review
- Syndromic and Monogenic Obesity: New Opportunities Due to Genetic-Based Pharmacological Treatment.Children (Basel, Switzerland) · 2024Review
- The genetic landscape of autism spectrum disorder in the Middle Eastern population.Frontiers in genetics · 2024Article
Corrections and comments
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Authors and funding
19 authors at 14 institutions in 3 countries.
Funding
Abstract
Deletions at chromosome 2p25.3 are associated with a syndrome consisting of intellectual disability and obesity. The smallest region of overlap for deletions at 2p25.3 contains PXDN and MYT1L. MYT1L is expressed only within the brain in humans. We hypothesized that single nucleotide variants (SNVs) in MYT1L would cause a phenotype resembling deletion at 2p25.3. To examine this we sought MYT1L SNVs in exome sequencing data from 4, 296 parent-child trios. Further variants were identified through a genematcher-facilitated collaboration. We report 9 patients with MYT1L SNVs (4 loss of function and 5 missense). The phenotype of SNV carriers overlapped with that of 2p25.3 deletion carriers. To identify the transcriptomic consequences of MYT1L loss of function we used CRISPR-Cas9 to create a knockout cell line. Gene Ontology analysis in knockout cells demonstrated altered expression of genes that regulate gene expression and that are localized to the nucleus. These differentially expressed genes were enriched for OMIM disease ontology terms "mental retardation". To study the developmental effects of MYT1L loss of function we created a zebrafish knockdown using morpholinos. Knockdown zebrafish manifested loss of oxytocin expression in the preoptic neuroendocrine area. This study demonstrates that MYT1L variants are associated with syndromic obesity in humans. The mechanism is related to dysregulated expression of neurodevelopmental genes and altered development of the neuroendocrine hypothalamus.
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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.