{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:53:44Z","timestamp":1791219224176,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,10,14]],"date-time":"2019-10-14T00:00:00Z","timestamp":1571011200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neurogastroenterology Motil"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The objective of this mini\u2010review is to provide insights on the advances in the understanding of the genetic variants associated with different manifestations of Hirschsprung disease, which may present with a range of denervation from a short segment of colon to total colonic and small bowel or extensive aganglionosis. A recent article in this journal documented potential gene variants involved in long\u2010segment Hirschsprung disease in 23 patients. Gene variants were identified using a 31\u2010gene panel of genes related to Hirschsprung disease or enteric neural crest cell development, as previously reported in the literature. The study identified potentially harmful variants in eight genes across 13 patients, with a detection rate of 56.5% (13\/23 patients). Five patients had pathologic variants in <jats:italic>RET, NRG1,<\/jats:italic> and <jats:italic>L1CAM<\/jats:italic>, and the remainder were considered variants of unknown significance. The authors attempted prenatal diagnosis of Hirschsprung disease utilizing an amniocentesis sample obtained for advanced maternal age in a family with a known deleterious <jats:italic>RET<\/jats:italic> mutation, manifested in the father (long\u2010segment Hirschsprung disease) and older daughter (total colonic aganglionosis). The fetus had the same <jats:italic>RET<\/jats:italic> variant but, after several years of follow\u2010up, has not developed any symptoms of Hirschsprung disease, supporting the conclusion that this <jats:italic>RET<\/jats:italic> mutation is an autosomal dominant gene with incomplete penetrance. This experience suggests that genetic counseling is appropriate to carefully assess the justification of prenatal testing, especially, when the phenotype of long\u2010segment Hirschsprung disease is so variable and the disease is potentially curable with surgery.<\/jats:p>","DOI":"10.1111\/nmo.13732","type":"journal-article","created":{"date-parts":[[2019,10,14]],"date-time":"2019-10-14T09:24:14Z","timestamp":1571045054000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Hirschsprung disease: Insights on genes, penetrance, and prenatal diagnosis"],"prefix":"10.1111","volume":"31","author":[{"given":"Xiao Jing","family":"Wang","sequence":"first","affiliation":[{"name":"Clinical Enteric Neuroscience Translational and Epidemiological Research (C.E.N.T.E.R.) Division of Gastroenterology and Hepatology Mayo Clinic Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6472-7514","authenticated-orcid":false,"given":"Michael","family":"Camilleri","sequence":"additional","affiliation":[{"name":"Clinical Enteric Neuroscience Translational and Epidemiological Research (C.E.N.T.E.R.) Division of Gastroenterology and Hepatology Mayo Clinic Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,10,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2016.202"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrgastro.2017.149"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/1066896916675729"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-830354"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(97)90446-2"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2008.08.049"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-003-1009-2"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2010.06.002"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2017.10.005"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2018.11.006"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1710308114"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2018.09.012"},{"key":"e_1_2_6_14_1","doi-asserted-by":"crossref","first-page":"e13665","DOI":"10.1111\/nmo.13665","article-title":"Distinctive genetic variation of long\u2010segment Hirschsprung's disease in Taiwan","author":"Yang W","year":"2019","journal-title":"Neurogastroenterol Motil"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-018-04432-7"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2014.00099"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-013-3361-1"}],"container-title":["Neurogastroenterology &amp; Motility"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fnmo.13732","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nmo.13732","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/nmo.13732","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nmo.13732","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T23:54:56Z","timestamp":1694044496000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nmo.13732"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,14]]},"references-count":16,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["10.1111\/nmo.13732"],"URL":"https:\/\/doi.org\/10.1111\/nmo.13732","archive":["Portico"],"relation":{},"ISSN":["1350-1925","1365-2982"],"issn-type":[{"value":"1350-1925","type":"print"},{"value":"1365-2982","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10,14]]},"assertion":[{"value":"2019-09-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-10-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e13732"}}