Version 1
: Received: 16 June 2023 / Approved: 19 June 2023 / Online: 19 June 2023 (04:22:25 CEST)
How to cite:
Boles, R.G.; Bar, O.; Vahey, E.; Ebenau, L.; Mintz, M. Clinical Insights in Cyclic Vomiting Syndrome Based on Genetic Findings. Preprints2023, 2023061284. https://doi.org/10.20944/preprints202306.1284.v1
Boles, R.G.; Bar, O.; Vahey, E.; Ebenau, L.; Mintz, M. Clinical Insights in Cyclic Vomiting Syndrome Based on Genetic Findings. Preprints 2023, 2023061284. https://doi.org/10.20944/preprints202306.1284.v1
Boles, R.G.; Bar, O.; Vahey, E.; Ebenau, L.; Mintz, M. Clinical Insights in Cyclic Vomiting Syndrome Based on Genetic Findings. Preprints2023, 2023061284. https://doi.org/10.20944/preprints202306.1284.v1
APA Style
Boles, R.G., Bar, O., Vahey, E., Ebenau, L., & Mintz, M. (2023). Clinical Insights in Cyclic Vomiting Syndrome Based on Genetic Findings. Preprints. https://doi.org/10.20944/preprints202306.1284.v1
Chicago/Turabian Style
Boles, R.G., Laurie Ebenau and Mark Mintz. 2023 "Clinical Insights in Cyclic Vomiting Syndrome Based on Genetic Findings" Preprints. https://doi.org/10.20944/preprints202306.1284.v1
Abstract
Cyclic vomiting syndrome (CVS) is a frequently disabling condition defined by severe, discrete, stereotypical episodes of nausea and vomiting. In our previous report [1], a candidate gene list was evaluated in a group of 80 unrelated participants with CVS with extensive genetic sequencing (whole exome/genome). Twenty-two good candidate genes for CVS association were identified, from which a cellular model of aberrant cation transport and energy metabolism was proposed. Herein, we present additional clinical information on those 80 participants, including eight case reports to highlight general principles and clinical practices. Our participants demonstrate substantial phenotypic and genotypic heterogeneity in CVS, including a propensity for specific co-morbidities in the participants and relatives, evolution towards episodes in which vomiting is less apparent, labeling with “non-organic” diagnoses, multiple genes, polygenic inheritance, and association with variants not designated as Pathogenic. Our case reports illustrate how genetic information can guide clinical management and argue to the high clinical utility of appropriate genetic testing and analysis in CVS. Expression profiling of our 22 candidate genes suggests an anatomical model in a unit defined by vagal afferents and adjacent cells. Our models are consistent with multiple current hypotheses of CVS and the efficacy of commonly-recommended treatments.
Keywords
case reports; clinical management; CVS; disease mechanisms; DNA sequencing; gene expression; genetic testing; genetics; personalized medicine; vagal afferents
Subject
Medicine and Pharmacology, Other
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
