{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T01:17:38Z","timestamp":1789780658586,"version":"4.0.1"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,8,13]],"date-time":"2019-08-13T00:00:00Z","timestamp":1565654400000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Chronic Intestinal Pseudo\u2010Obstruction (CIPO) is a rare gastrointestinal disorder, which affects the smooth muscle contractions of the gastrointestinal tract. Dominant mutations in the smooth muscle actin gene,\n                    <jats:italic>ACTG2<\/jats:italic>\n                    , accounts for 44%\u201050% of CIPO patients. Other recessive or X\u2010linked genes, including\n                    <jats:italic>MYLK<\/jats:italic>\n                    ,\n                    <jats:italic>LMOD1<\/jats:italic>\n                    ,\n                    <jats:italic>RAD21<\/jats:italic>\n                    ,\n                    <jats:italic>MYH11<\/jats:italic>\n                    ,\n                    <jats:italic>MYL9<\/jats:italic>\n                    , and\n                    <jats:italic>FLNA<\/jats:italic>\n                    were reported in single cases. In this study, we used Whole\u2010Exome Sequencing (WES) to study 23 independent CIPO families including one extended family with 13 affected members. A dominantly inherited rare mutation, c.5819delC (p.Pro1940HisfsTer91), in the smooth muscle myosin gene,\n                    <jats:italic>MYH11<\/jats:italic>\n                    , was found in the extended family, shared by 7 affected family members but not by 3 unaffected family members with available DNA, suggesting a high probability of genetic linkage. Gene burden analysis indicates that additional genes,\n                    <jats:italic>COL4A1<\/jats:italic>\n                    ,\n                    <jats:italic>FBLN1<\/jats:italic>\n                    and\n                    <jats:italic>HK2<\/jats:italic>\n                    , may be associated with the disease. This study expanded our understanding of CIPO etiology and provided additional genetic evidence to physicians and genetic counselors for CIPO diagnosis.\n                  <\/jats:p>","DOI":"10.1111\/cge.13617","type":"journal-article","created":{"date-parts":[[2019,8,7]],"date-time":"2019-08-07T00:38:02Z","timestamp":1565138282000},"page":"473-477","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Identification of a dominant\n                    <i>MYH11<\/i>\n                    causal variant in chronic intestinal pseudo\u2010obstruction: Results of whole\u2010exome sequencing"],"prefix":"10.1111","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8376-1758","authenticated-orcid":false,"given":"Weilai","family":"Dong","sequence":"first","affiliation":[{"name":"Department of Genetics Yale University School of Medicine  New Haven Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clinton","family":"Baldwin","sequence":"additional","affiliation":[{"name":"Center for Human Genetics and Dept. Ob\/Gyn Tufts University School of Medicine  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jungmin","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Genetics Yale University School of Medicine  New Haven Connecticut"},{"name":"Laboratory of Human Genetics and Genomics Rockefeller University  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeff M.","family":"Milunsky","sequence":"additional","affiliation":[{"name":"Center for Human Genetics and Dept. Ob\/Gyn Tufts University School of Medicine  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junhui","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Genetics Yale University School of Medicine  New Haven Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaya","family":"Bilguvar","sequence":"additional","affiliation":[{"name":"Department of Genetics Yale University School of Medicine  New Haven Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard P.","family":"Lifton","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics and Genomics Rockefeller University  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aubrey","family":"Milunsky","sequence":"additional","affiliation":[{"name":"Center for Human Genetics and Dept. Ob\/Gyn Tufts University School of Medicine  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,8,13]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/0884533613485904"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11938-005-0046-4"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.2188\/jea.JE20120173"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000001608"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv497"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.05.011"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.256"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38647"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13557"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1620507114"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0055-5"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2014.12.034"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/513321"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3970"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.24399"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00244.2004"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1721"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2015.28"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0029(20000915)50:6<532::AID-JEMT10>3.0.CO;2-E"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13617","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13617","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13617","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T13:51:20Z","timestamp":1694181080000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13617"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,13]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["10.1111\/cge.13617"],"URL":"https:\/\/doi.org\/10.1111\/cge.13617","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13617\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13617\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13617\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13617\/v4\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13617\/v3\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13617\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13617\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13617\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13617\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13617\/v4\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13617\/v3\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,13]]},"assertion":[{"value":"2019-05-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-08-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}