ArticleAmerican journal of human genetics2016
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 73 citations in OpenAlex.
- POU3F2 regulates canonical Wnt signalling via SOX13 and ADNP to expand the neural progenitor population.Brain : a journal of neurology · 2025Article
- Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk.Cell genomics · 2024Article
- A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.Current obesity reports · 2024Review
- Rare genetic forms of obesity in childhood and adolescence, a comprehensive review of their molecular mechanisms and diagnostic approach.European journal of pediatrics · 2023Review
- Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.American journal of human genetics · 2023Article
- Article
- Unraveling shared susceptibility loci and Mendelian genetic associations linking educational attainment with multiple neuropsychiatric disorders.Frontiers in psychiatry · 2023Article
- A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions.Diagnostics (Basel, Switzerland) · 2022Article
- Reviewed and updated Algorithm for Genetic Characterization of Syndromic Obesity Phenotypes.Current genomics · 2022Review
- Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion.Human genome variation · 2022Article
- ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy.European journal of human genetics : EJHG · 2021Article
- Transcription factor POU3F2 regulates TRIM8 expression contributing to cellular functions implicated in schizophrenia.Molecular psychiatry · 2021Article
- Transcriptome-wide transmission disequilibrium analysis identifies novel risk genes for autism spectrum disorder.PLoS genetics · 2021Article
- Genetic and Genomic Advances in Developmental Models: Applications for Nutrition Research.Advances in nutrition (Bethesda, Md.) · 2020Review
- Network Structure Analysis Identifying Key Genes of Autism and Its Mechanism.Computational and mathematical methods in medicine · 2020Article
- Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity.Frontiers in endocrinology · 2020Article
- De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.American journal of human genetics · 2019Article
- Article
- Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.American journal of human genetics · 2018Article
- Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.Molecular cytogenetics · 2018Article
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Authors and funding
25 authors at 14 institutions in 7 countries.
Funding
Abstract
Genetic studies of intellectual disability and identification of monogenic causes of obesity in humans have made immense contribution toward the understanding of the brain and control of body mass. The leptin > melanocortin > SIM1 pathway is dysregulated in multiple monogenic human obesity syndromes but its downstream targets are still unknown. In ten individuals from six families, with overlapping 6q16.1 deletions, we describe a disorder of variable developmental delay, intellectual disability, and susceptibility to obesity and hyperphagia. The 6q16.1 deletions segregated with the phenotype in multiplex families and were shown to be de novo in four families, and there was dramatic phenotypic overlap among affected individuals who were independently ascertained without bias from clinical features. Analysis of the deletions revealed a ∼350 kb critical region on chromosome 6q16.1 that encompasses a gene for proneuronal transcription factor POU3F2, which is important for hypothalamic development and function. Using morpholino and mutant zebrafish models, we show that POU3F2 lies downstream of SIM1 and controls oxytocin expression in the hypothalamic neuroendocrine preoptic area. We show that this finding is consistent with the expression patterns of POU3F2 and related genes in the human brain. Our work helps to further delineate the neuro-endocrine control of energy balance/body mass and demonstrates that this molecular pathway is conserved across multiple species.
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