CASE REPORT article
Front. Pediatr.
Sec. Pediatric Gastroenterology, Hepatology and Nutrition
Volume 13 - 2025 | doi: 10.3389/fped.2025.1572366
Next generation sequencing misguided the clinical interpretation of the PRSS1 variant in pediatric pancreatitis:A case report
Provisionally accepted
- 1Department of Pharmacy, Children’s Hospital of Nanjing Medical University, NanJing, China
- 2Department of Emergency, Children's Hospital of Nanjing Medical University, Nanjing, Liaoning Province, China
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Next-generation sequencing (NGS), known as massively parallel sequencing, is transitioning from research tools to a clinical diagnostic methods. Whole-exome sequencing (WES), a specific applications of NGS, has emerged as a valuablefirst-line diagnostic tool for patients with rare diseases and shows promise as aas a comprehensive approach for assessing the prevalence of hereditary pancreatitis. Herein, we present a pediatric case that highlights the pitfalls of false-positive missense variants calls in the PRSS1 gene when using NGS. The patient was ultimately diagnosed with valproic acid-induced acute pancreatitis. Our findings emphasize that relying solely on WES data in epidemiological studies of hereditary pancreatitis might introduce bias, given the difficulties in accurately detecting variants within highly homologous genomic regions.
Keywords: PRSS1, pediatric, acute pancreatitis, NGS - next generation sequencing, Pitfall
Received: 07 Feb 2025; Accepted: 29 Jul 2025.
Copyright: © 2025 Liu, Miao and Zhang. 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: Yao Liu, Department of Pharmacy, Children’s Hospital of Nanjing Medical University, NanJing, China
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