{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:22:32Z","timestamp":1747146152464,"version":"3.40.5"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,9,24]],"date-time":"2021-09-24T00:00:00Z","timestamp":1632441600000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cerebral cavernous malformations (CCMs) of the central nervous system arise sporadically or secondary to genomic variation. Established genetic etiologies include deleterious variants in <jats:italic>KRIT1<\/jats:italic> (<jats:italic>CCM1<\/jats:italic>), malcavernin (<jats:italic>CCM2<\/jats:italic>), and <jats:italic>PDCD10<\/jats:italic> (<jats:italic>CCM3<\/jats:italic>). <jats:italic>KRIT1<\/jats:italic>\u2010related disease has not been described in conjunction with lymphatic defects, although lymphatic defects with abnormal endothelial cell junctions have been observed in mice deficient in HEG1\u2010KRIT1 signaling. We report a proband with CCMs, multiple chylous mesenteric cysts, and chylous ascites with leaky lymphatic vasculature. Clinical short\u2010read exome sequencing detected a disease\u2010associated <jats:italic>KRIT1<\/jats:italic> variant (NM_194456.1:c.[1927C&gt;T];[=], p.(Gln643*)). We postulate an expansion of <jats:italic>KRIT1<\/jats:italic>\u2010related disease to include lymphatic malformations and lymphatic endothelial dysfunction.<\/jats:p>","DOI":"10.1002\/ajmg.a.62510","type":"journal-article","created":{"date-parts":[[2021,9,25]],"date-time":"2021-09-25T00:24:33Z","timestamp":1632529473000},"page":"332-335","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with <scp><i>KRIT1<\/i><\/scp>\u2010related disease"],"prefix":"10.1002","volume":"188","author":[{"given":"Ashley","family":"Moller\u2010Hansen","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Huynh","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3097-241X","authenticated-orcid":false,"given":"Cornelius F.","family":"Boerkoel","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7431-6794","authenticated-orcid":false,"given":"Hui\u2010Lin","family":"Chin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Provincial Medical Genetics Program University of British Columbia and Women's Hospital of British Columbia  Vancouver British Columbia Canada"},{"name":"Khoo Teck Puat\u2010National University Children's Medical Institute, National University Hospital  Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,9,24]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742-4658.2007.06068.x"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/antiox8010027"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-017-3864-3"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1312148111"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200705175"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.003293"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2020.06.065"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.1918"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.059329"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000449281"},{"volume-title":"GeneReviews\u00ae","year":"2016","author":"Morrison L.","key":"e_1_2_8_13_1"},{"key":"e_1_2_8_14_1","unstructured":"National Center for Biotechnology Information(2021a).ClinVar; [VCV000014662.15].https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/VCV000014662.15."},{"key":"e_1_2_8_15_1","unstructured":"National Center for Biotechnology Information. (2021b).ClinVar; [VCV000590726.1].https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/VCV000590726.1."},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajpath.2017.05.009"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1089\/lrb.2017.0084"},{"volume-title":"Online Mendelian Inheritance in Man\u00ae","year":"2021","author":"OMIM\u00ae","key":"e_1_2_8_18_1"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.117.017074"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20091258"},{"issue":"3","key":"e_1_2_8_21_1","first-page":"201","article-title":"Cerebral cavernous malformation (CCM) disease: From monogenic forms to genetic susceptibility factors","volume":"59","author":"Trapani E.","year":"2015","journal-title":"Journal of Neurosurgical Sciences"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-07-726448"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajpath.2013.04.007"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2019.07.072"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62510","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62510","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62510","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T19:05:59Z","timestamp":1692558359000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62510"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,24]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["10.1002\/ajmg.a.62510"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62510","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2021,9,24]]},"assertion":[{"value":"2021-05-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}