PERSPECTIVE article
Front. Psychiatry
Sec. Behavioral and Psychiatric Genetics
Volume 16 - 2025 | doi: 10.3389/fpsyt.2025.1627378
This article is part of the Research TopicPsychiatric Insights in Genetic and Chromosomal DisordersView all 4 articles
Eating Behaviour and Eating Disorders in Individuals with Rare Neurodevelopmental Variants: Current Knowledge and Future Research Directions
Provisionally accepted- Cardiff University, Cardiff, United Kingdom
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Rare neurodevelopmental copy number variants (ND-CNVs) have been implicated in a range of psychiatric and neurodevelopmental conditions. Despite their known association with a range of behavioural outcomes, the role of ND-CNVs in eating disorders and related traits remains underexplored. This review synthesises current knowledge on the association between ND-CNVs, eating disorders and eating behaviour, highlighting the potential for research into ND-CNVs to provide insights into the genetic architecture of eating disorders. Initial CNV genome-wide association studies have been conducted for anorexia nervosa, and there is now a need to investigate the roles of ND-CNVs in larger samples and across a range of eating disorders. Population cohort studies, and genetic-first designs whereby individuals with a clinical genetic diagnosis undergo deep phenotyping, provide strong evidence for the impact of ND-CNVs on body mass index (BMI), with some ND-CNVs associated with increased BMI, and others decreased BMI relative to the population. Although there have been detailed characterisations of eating behaviour phenotypes in Prader-Willi Syndrome and 16p11.2 Deletion and Duplication Syndromes, overall population and genetic-first studies of the impact of ND-CNVs on eating behaviour and eating disorder risk have been limited. Key research gaps to overcome include the lack of relevant eating disorder phenotype data in large-scale cohorts, limited research into the mechanistic pathways between genotype and phenotypic outcome, and the need for research to include diverse populations. Cross-disciplinary collaboration will be essential to advance the field to enable the development of effective interventions and genetic counselling for eating behaviour and eating disorders.
Keywords: Eating Disorders, eating behaviour, psychiatric genetics, Copy number variant (CNV), medical genetics
Received: 12 May 2025; Accepted: 02 Oct 2025.
Copyright: © 2025 Chawner. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Samuel Chawner, chawnersj@cardiff.ac.uk
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