ArticleJournal of neural transmission (Vienna, Austria : 1996)2019
Exome sequencing in a familial form of anorexia nervosa supports multigenic etiology.
Article in Journal of neural transmission (Vienna, Austria : 1996), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- Rare protein-disrupting variants inmedRxiv : the preprint server for health sciences · 2026Article
- Patients with anorexia nervosa have an increased burden of rare, damaging mutations in the BBOX1 gene.Journal of eating disorders · 2025Article
- RareHeliyon · 2024Article
- Gene variants in eating disorders. Focus on anorexia nervosa, bulimia nervosa, and binge-eating disorder.Journal of preventive medicine and hygiene · 2022Review
- A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa.Eating and weight disorders : EWD · 2022Article
- Genetics of eating disorders in the genome-wide era.Psychological medicine · 2021Review
- Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment.Molecular genetics & genomic medicine · 2020Review
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
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Abstract
Anorexia nervosa (AN) is a severe debilitating eating disorder. To date, only very few genes that predispose to AN have been identified. An alternative to association studies is to characterize ultra-rare variants in familial forms of AN. Here, we have implemented this approach to identify pathways that contribute to the development of AN through the analysis of a family with three members suffering from AN by exome analysis. We identified three ultra-rare deleterious variants in three genes (DRD4, CCKAR, NMS), already connected to the reward pathway, that co-segregate with AN, suggesting that this pathway might be playing a predisposing role in AN at least in familial forms.
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