{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T16:50:37Z","timestamp":1793465437037,"version":"4.5.0"},"reference-count":9,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2019,10,21]],"date-time":"2019-10-21T00:00:00Z","timestamp":1571616000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["P01HL110869\u201001"],"award-info":[{"award-number":["P01HL110869\u201001"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["RO1 HL62594"],"award-info":[{"award-number":["RO1 HL62594"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Grange syndrome (OMIM 602531) is an autosomal recessive condition characterized by severe early onset vascular occlusive disease and variable penetrance of brachydactyly, syndactyly, bone fragility, and learning disabilities. Grange syndrome is caused by homozygous or compound heterozygous loss\u2010of\u2010function variants in the <jats:italic>YYA1P1<\/jats:italic> gene. We report on the case of a 53\u2010year old female with novel homozygous missense variants in <jats:italic>YYA1P1<\/jats:italic> (c.1079C&gt;T, p.Pro360Leu), presenting with a history of brachysyndactyly, hypertension, and ischemic stroke. Imaging studies revealed stenosis of the bilateral internal carotid with extensive collateralization of cerebral vessels in a moyamoya\u2010like pattern, along with stenosis in the splenic, common hepatic, celiac, left renal, and superior mesenteric arteries. Functional studies conducted with the patient's dermal fibroblasts suggest that the p.Pro360Leu variant decreases the stability of the YY1AP1 protein. This is the first report of a missense variant associated with Grange syndrome characterized by later onset of vascular disease and a lack of developmental delay and bone fragility.<\/jats:p>","DOI":"10.1002\/ajmg.a.61379","type":"journal-article","created":{"date-parts":[[2019,10,21]],"date-time":"2019-10-21T14:05:32Z","timestamp":1571666732000},"page":"2500-2505","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Grange syndrome due to homozygous <i>YY1AP1<\/i> missense rare variants"],"prefix":"10.1002","volume":"179","author":[{"given":"Isabella V.","family":"Ciuffetelli Alamo","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School University of Texas Health Science Center at Houston  Houstan Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3722-9939","authenticated-orcid":false,"given":"Callie S.","family":"Kwartler","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School University of Texas Health Science Center at Houston  Houstan Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen R.","family":"Regalado","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School University of Texas Health Science Center at Houston  Houstan Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rana O.","family":"Afifi","sequence":"additional","affiliation":[{"name":"Cardiothoracic and Vascular Surgery Department McGovern Medical School at the University of Texas Health Science Center at Houston  Houstan Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandhya","family":"Parkash","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dalhousie University  Halifax Nova Scotia Canada"},{"name":"Maritime Medical Genetic Service IWK Health Service  Halifax Nova Scotia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Rideout","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dalhousie University  Halifax Nova Scotia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong\u2010chuan","family":"Guo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School University of Texas Health Science Center at Houston  Houstan Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianna M.","family":"Milewicz","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School University of Texas Health Science Center at Houston  Houstan Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,10,21]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"23","article-title":"Gender differences in the prevalence of coronary artery tortuosity and its association with coronary artery disease","volume":"14","author":"Chiha J.","year":"2016","journal-title":"Int J Cardiol Heart 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