{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T13:07:34Z","timestamp":1789132054331,"version":"build-2803163510"},"reference-count":54,"publisher":"Public Library of Science (PLoS)","issue":"11","license":[{"start":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T00:00:00Z","timestamp":1604534400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Heinz and Heide D\u00fcrr Stiftung","award":["2017\/2.2.1\/04"],"award-info":[{"award-number":["2017\/2.2.1\/04"]}]},{"name":"Heidelberg Stiftung Chirurgie"},{"DOI":"10.13039\/501100010441","name":"Medizinischen Fakult\u00e4t Heidelberg, Universit\u00e4t Heidelberg","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010441","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Dres. Majic\/Majic Schlez Stiftung"},{"DOI":"10.13039\/501100004350","name":"Studienstiftung des Deutschen Volkes","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004350","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["CP18\/00116"],"award-info":[{"award-number":["CP18\/00116"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI16\/0142 and PI19\/01550"],"award-info":[{"award-number":["PI16\/0142 and PI19\/01550"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Theme-Based Research Scheme","award":["T12C-714\/14-R"],"award-info":[{"award-number":["T12C-714\/14-R"]}]}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"abstract":"<jats:p>Hirschsprung disease (HSCR, OMIM 142623) involves congenital intestinal obstruction caused by dysfunction of neural crest cells and their progeny during enteric nervous system (ENS) development. HSCR is a multifactorial disorder; pathogenetic variants accounting for disease phenotype are identified only in a minority of cases, and the identification of novel disease-relevant genes remains challenging. In order to identify and to validate a potential disease-causing relevance of novel HSCR candidate genes, we established a complementary study approach, combining whole exome sequencing (WES) with transcriptome analysis of murine embryonic ENS-related tissues, literature and database searches,<jats:italic>in silico<\/jats:italic>network analyses, and functional readouts using candidate gene-specific genome-edited cell clones. WES datasets of two patients with HSCR and their non-affected parents were analysed, and four novel HSCR candidate genes could be identified:<jats:italic>ATP7A<\/jats:italic>,<jats:italic>SREBF1<\/jats:italic>,<jats:italic>ABCD1<\/jats:italic>and<jats:italic>PIAS2<\/jats:italic>. Further rare variants in these genes were identified in additional HSCR patients, suggesting disease relevance. Transcriptomics revealed that these genes are expressed in embryonic and fetal gastrointestinal tissues. Knockout of these genes in neuronal cells demonstrated impaired cell differentiation, proliferation and\/or survival. Our approach identified and validated candidate HSCR genes and provided further insight into the underlying pathomechanisms of HSCR.<\/jats:p>","DOI":"10.1371\/journal.pgen.1009106","type":"journal-article","created":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T18:25:20Z","timestamp":1604600720000},"page":"e1009106","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":11,"title":["A complementary study approach unravels novel players in the pathoetiology of Hirschsprung 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