{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T15:50:46Z","timestamp":1791561046367,"version":"4.3.4"},"reference-count":21,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T00:00:00Z","timestamp":1780012800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T00:00:00Z","timestamp":1780012800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>RASA1\u2010related disorders typically present as capillary malformation\u2013arteriovenous malformation (CM\u2010AVM) syndrome; visceral, especially diffuse gastrointestinal (GI) involvement has not previously been reported. We describe the first case of extensive GI vascular malformations caused by a novel RASA1 splice\u2010site mutation. A 29\u2010year\u2010old man presented with 2\u2010year intermittent hematochezia. Contrast\u2010enhanced CT, double\u2010balloon enteroscopy (DBE) and superior mesenteric angiography revealed diffuse vascular malformations throughout the small bowel and stomach. Targeted next\u2010generation sequencing identified a heterozygous de\u2010novo splice\u2010donor mutation (NM_002890.3:c.1049+2T&gt;G) in intron 6 of RASA1, predicted to be pathogenic. An incidental likely\u2010pathogenic heterozygous frameshift variant in MYBPC3 (NM_000256.3:c.989del, p.Pro330HisfsTer20) was also detected. ISSVA (International Society for the Study of Vascular Anomalies) classifies it as Capillary Malformation\u2010Arteriovenous Malformation (CM\u2010AVM) within Fast\u2010flow Vascular Malformations. Multidisciplinary consultation concluded that the lesions were too extensive for curative resection; the patient was discharged for close surveillance with a plan for sirolimus trial and selective surgical, Interventional or endoscopic hemostasis as needed. This case expands\u00a0the\u00a0phenotypic spectrum of RASA1 loss\u2010of\u2010function variants to include diffuse GI vascular malformations. When young patients present with obscure GI bleeding and imaging suggests multifocal angiodysplasia, germline RASA1 analysis should be considered. Early molecular diagnosis facilitates family counseling, targeted surveillance, and personalized therapy.<\/jats:p>","DOI":"10.1002\/ajmga.70187","type":"journal-article","created":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T01:49:32Z","timestamp":1780105772000},"page":"2542-2546","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Splice Site Mutation in the\n                    <scp>RASA1<\/scp>\n                    Gene Causing Rare Diffuse Gastrointestinal Vascular Malformations: A Case Report and Literature Review"],"prefix":"10.1002","volume":"200","author":[{"given":"Lang","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Gastroenterology Air Force Medical Center  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoubin","family":"Ning","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Air Force Medical Center  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongyu","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Air Force Medical Center  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baojie","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Air Force Medical Center  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bairong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Air Force Medical Center  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,29]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.116.026886"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.156928"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI124917"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/ph16020165"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106792"},{"issue":"2","key":"e_1_2_11_7_1","first-page":"125","article-title":"RASA1 Analysis Guides Management in a Family With Capillary Malformation\u2010Arteriovenous Malformation [J]","volume":"1","author":"Flore L. 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