Next generation sequencing misguided the clinical interpretation of the PRSS1 variant in pediatric pancreatitis: a case report
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...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1572366/full |
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| author | Yao Liu Hongjun Miao Qin Zhang |
| author_facet | Yao Liu Hongjun Miao Qin Zhang |
| author_sort | Yao Liu |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-6fffefb1e0a04c73a342f48503a05ee2 |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-6fffefb1e0a04c73a342f48503a05ee22025-08-20T03:59:44ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-08-011310.3389/fped.2025.15723661572366Next generation sequencing misguided the clinical interpretation of the PRSS1 variant in pediatric pancreatitis: a case reportYao Liu0Hongjun Miao1Qin Zhang2Department of Pharmacy, Children's Hospital of Nanjing Medical University, Nanjing, ChinaDepartment of Emergency, Children's Hospital of Nanjing Medical University, Nanjing, ChinaDepartment of Emergency, Children's Hospital of Nanjing Medical University, Nanjing, ChinaNext-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.https://www.frontiersin.org/articles/10.3389/fped.2025.1572366/fullPRSS1pediatricacute pancreatitisNGS - next generation sequencingpitfall |
| spellingShingle | Yao Liu Hongjun Miao Qin Zhang Next generation sequencing misguided the clinical interpretation of the PRSS1 variant in pediatric pancreatitis: a case report Frontiers in Pediatrics PRSS1 pediatric acute pancreatitis NGS - next generation sequencing pitfall |
| title | Next generation sequencing misguided the clinical interpretation of the PRSS1 variant in pediatric pancreatitis: a case report |
| title_full | Next generation sequencing misguided the clinical interpretation of the PRSS1 variant in pediatric pancreatitis: a case report |
| title_fullStr | Next generation sequencing misguided the clinical interpretation of the PRSS1 variant in pediatric pancreatitis: a case report |
| title_full_unstemmed | Next generation sequencing misguided the clinical interpretation of the PRSS1 variant in pediatric pancreatitis: a case report |
| title_short | Next generation sequencing misguided the clinical interpretation of the PRSS1 variant in pediatric pancreatitis: a case report |
| title_sort | next generation sequencing misguided the clinical interpretation of the prss1 variant in pediatric pancreatitis a case report |
| topic | PRSS1 pediatric acute pancreatitis NGS - next generation sequencing pitfall |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1572366/full |
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