{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T10:19:43Z","timestamp":1760955583756,"version":"3.37.3"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,8,28]],"date-time":"2015-08-28T00:00:00Z","timestamp":1440720000000},"content-version":"vor","delay-in-days":27,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Moyamoya disease (MMD) is a chronic steno\u2010occlusive arteriopathy involving the development of abnormal collateral vessels. Ring finger protein (<jats:italic>RNF213<\/jats:italic>) on the 17q25.3 locus was identified as an MMD\u2010susceptibility gene in East Asian populations. We report a 5\u2010year\u2010old Japanese boy diagnosed with cerebral infarction and unilateral MMD. Magnetic resonance angiography (MRA) showed severe stenosis of the left internal carotid artery (ICA), terminal portion of the left ICA, and left origin of the posterior cerebral artery. Genetic testing indicated a heterozygous c.14429G\u2009&gt;\u2009A (formerly described as c.14576G\u2009&gt;\u2009A) variant in <jats:italic>RNF213<\/jats:italic>. The boy's mother had no neurological symptoms, but sequencing of <jats:italic>RNF213<\/jats:italic> showed the same variant, and MRA indicated stenosis of the terminal bilateral ICA. This is the first report, to our knowledge, of different MMD phenotypes in a familial case involving the same heterozygous c.14429G\u2009&gt;\u2009A variant in <jats:italic>RNF213<\/jats:italic>. Genetic testing for <jats:italic>RNF213<\/jats:italic> is suggested for family member screening.<\/jats:p>","DOI":"10.1111\/ped.12689","type":"journal-article","created":{"date-parts":[[2015,8,28]],"date-time":"2015-08-28T18:51:44Z","timestamp":1440787904000},"page":"798-801","source":"Crossref","is-referenced-by-count":6,"title":["Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G\u2009&gt;\u2009A variant in <i>RNF213<\/i>"],"prefix":"10.1111","volume":"57","author":[{"given":"Takeshi","family":"Inoue","sequence":"first","affiliation":[{"name":"Department of Pediatrics Dokkyo Medical University Koshigaya Hospital  Koshigaya\u2010shi Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuyuki","family":"Murakami","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dokkyo Medical University Koshigaya Hospital  Koshigaya\u2010shi Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoru","family":"Sakadume","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dokkyo Medical University Koshigaya Hospital  Koshigaya\u2010shi Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3775-4538","authenticated-orcid":false,"given":"Yasuhiro","family":"Kido","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dokkyo Medical University Koshigaya Hospital  Koshigaya\u2010shi Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Astuo","family":"Kikuchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dokkyo Medical University Koshigaya Hospital  Koshigaya\u2010shi Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natsuko","family":"Ichinoi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dokkyo Medical University Koshigaya Hospital  Koshigaya\u2010shi Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kensuke","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dokkyo Medical University Koshigaya Hospital  Koshigaya\u2010shi Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeo","family":"Kure","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dokkyo Medical University Koshigaya Hospital  Koshigaya\u2010shi Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryoichi","family":"Sakuta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dokkyo Medical University Koshigaya Hospital  Koshigaya\u2010shi Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,8,28]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1969.00480090076012"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(08)70240-0"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.132"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318249f71f"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0804622"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0303-8467(97)00082-6"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2012.105"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.5853\/jos.2014.16.2.65"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.111.622522"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0303-8467(97)00054-1"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12689","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.12689","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T10:47:31Z","timestamp":1695984451000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.12689"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["10.1111\/ped.12689"],"URL":"https:\/\/doi.org\/10.1111\/ped.12689","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"type":"print","value":"1328-8067"},{"type":"electronic","value":"1442-200X"}],"subject":[],"published":{"date-parts":[[2015,8]]}}}