{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T00:49:18Z","timestamp":1783471758747,"version":"3.55.0"},"reference-count":38,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2013,7,26]]},"published-print":{"date-parts":[[2013,8]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Genetic alterations may contribute to chronic pancreatitis (CP) in Chinese young patients. This study was designed to investigate mutations of cationic trypsinogen (\n                      <jats:italic>PRSS1<\/jats:italic>\n                      ), pancreatic secretory trypsin inhibitor or serine protease inhibitor Kazal type 1 (\n                      <jats:italic>SPINK1<\/jats:italic>\n                      ), cystic fibrosis transmembrane conductance regulator\n                      <jats:italic>(CFTR)<\/jats:italic>\n                      , chymotrypsin C\n                      <jats:italic>(CTRC)<\/jats:italic>\n                      and\n                      <jats:italic>CLDN2<\/jats:italic>\n                      genes and the copy number variations (CNVs) of\n                      <jats:italic>PRSS1<\/jats:italic>\n                      and asses associations with the development of idiopathic CP (ICP) in Chinese children.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Retrospective.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting<\/jats:title>\n                    <jats:p>A single center.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Participants<\/jats:title>\n                    <jats:p>75 ICP Chinese children (40 boys and 35 girls).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Primary and secondary outcome measures<\/jats:title>\n                    <jats:p>\n                      Mutations of\n                      <jats:italic>PRSS1<\/jats:italic>\n                      ,\n                      <jats:italic>SPINK1<\/jats:italic>\n                      ,\n                      <jats:italic>CFTR<\/jats:italic>\n                      ,\n                      <jats:italic>CTRC<\/jats:italic>\n                      and\n                      <jats:italic>CLDN2<\/jats:italic>\n                      genes and CNVs.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      7 patients had heterozygous mutations in\n                      <jats:italic>PRSS1<\/jats:italic>\n                      , that is, N29I (n=1), R122H or R122C (n=6). The CNVs of PRSS1 in five patients had abnormal copies (1 copy (n=4), five copies (n=1)). 43 patients had IVS3+2T&gt;C (rs148954387) (10 homozygous and 33 heterozygous) in\n                      <jats:italic>SPINK1<\/jats:italic>\n                      . None of the\n                      <jats:italic>PRSS1<\/jats:italic>\n                      mutation patients carried a\n                      <jats:italic>SPINK1<\/jats:italic>\n                      mutation. Frequency of\n                      <jats:italic>PRSS1<\/jats:italic>\n                      and\n                      <jats:italic>SPINK1<\/jats:italic>\n                      mutations was 9.3% and 57.3%, respectively, with an overall frequency of 66.6% (50\/75). In addition, one patient had a novel deletion of\n                      <jats:italic>CFTR<\/jats:italic>\n                      (GCTTCCTA from c.500 to c.508 leading to the shortened polypeptide molecule via a stop codon). Another patient had a novel missense in\n                      <jats:italic>CLDN2<\/jats:italic>\n                      exon 2 (c.592A&gt;C mutation). Clinically, patients with\n                      <jats:italic>SPINK1<\/jats:italic>\n                      mutations had a higher rate of pancreatic duct stones, pancreatic pseudocyst and pancreatic calcification than those without\n                      <jats:italic>SPINK1<\/jats:italic>\n                      mutations (p&lt;0.05).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      <jats:italic>SPINK1<\/jats:italic>\n                      mutations were more commonly associated with Chinese children with ICP.\n                      <jats:italic>SPINK1<\/jats:italic>\n                      IVS3+2T&gt;C mutation may play an important role in the pathogenesis of Chinese paediatric ICP. However, further study is needed to confirm and to investigate the role of these genes in the development of Chinese ICP.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/bmjopen-2013-003150","type":"journal-article","created":{"date-parts":[[2013,9,3]],"date-time":"2013-09-03T20:14:31Z","timestamp":1378239271000},"page":"e003150","source":"Crossref","is-referenced-by-count":44,"title":["Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study"],"prefix":"10.1136","volume":"3","author":[{"given":"Wei","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Gastroenterology, Changhai Hospital, The Second Military Medicine University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Tian","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Changhai 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