ArticleMolecular psychiatry2017
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Article in Molecular psychiatry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed.
- Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech.Molecular autism · 2025Trial
- Long-term effects of bariatric surgery in patients with obesity and chromosome 16 p11.2 microdeletion.Surgery for obesity and related diseases : official journal of the American Society for Bariatric Surgery · 2017Trial
- 5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder.European journal of human genetics : EJHG · 2026Article
- Review
- Structural variants in the 3D genome as drivers of disease.Nature reviews. Genetics · 2025Review
- Using Whole Exome Sequencing to Identify Genetic Causes of Neurodevelopmental Disorders in a Cohort of 11 Patients: A Single Center Experience.International journal of molecular sciences · 2025Article
- Structural variation, selection, and diversification of the NPIP gene family from the human pangenome.Cell genomics · 2025Article
- Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant.Nucleic acids research · 2025Article
- Neonatal seizures associated with a rare familial 16p11.2 microduplication: A case report.The Journal of international medical research · 2025Article
- Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case-control study.Obesity (Silver Spring, Md.) · 2025Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.European journal of human genetics : EJHG · 2024Article
- Tracing the Chromatin: From 3C to Live-Cell Imaging.Chemical & biomedical imaging · 2024Review
- Epigenetic regulatory layers in the 3D nucleus.Molecular cell · 2024Review
- Health supervision for children and adolescents with 16p11.2 deletion syndrome.Cold Spring Harbor molecular case studies · 2023Article
- The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.Journal of medical genetics · 2023Article
- Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and theACS chemical neuroscience · 2023Article
- Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis.Nature neuroscience · 2023Article
- Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.Cell reports. Medicine · 2023Article
- Combinations of genes at the 16p11.2 and 22q11.2 CNVs contribute to neurobehavioral traits.PLoS genetics · 2023Article
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Authors and funding
34 authors.
Funding
Abstract
Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3 interval showed that these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesity/underweight and macrocephaly/microcephaly. Such phenotypes were previously associated with rearrangements of the non-overlapping proximal 16p11.2 600 kb BP4-BP5 interval. These two CNV-prone regions at 16p11.2 are reciprocally engaged in complex chromatin looping, as successfully confirmed by 4C-seq, fluorescence in situ hybridization and Hi-C, as well as coordinated expression and regulation of encompassed genes. We observed that genes differentially expressed in 16p11.2 BP4-BP5 CNV carriers are concomitantly modified in their chromatin interactions, suggesting that disruption of chromatin interplays could participate in the observed phenotypes. We also identified cis- and trans-acting chromatin contacts to other genomic regions previously associated with analogous phenotypes. For example, we uncovered that individuals with reciprocal rearrangements of the trans-contacted 2p15 locus similarly display mirror phenotypes on head circumference and weight. Our results indicate that chromosomal contacts' maps could uncover functionally and clinically related genes.
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