{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T16:25:40Z","timestamp":1774542340322,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2012,11,19]],"date-time":"2012-11-19T00:00:00Z","timestamp":1353283200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Floating\u2013Harbor syndrome (FHS) is a rare genetic disorder recently shown to be caused by mutations in the Snf2\u2010related CREB\u2010binding protein activator protein gene (<jats:italic>SRCAP<\/jats:italic>). It comprises three key clinical features of characteristic facies, expressive and receptive speech impairment and short stature. We report on a patient with this syndrome associated with early adult\u2010onset hypertension and bilateral polycystic kidneys. Family screening for polycystic kidney disease was negative and mutations in polycystic kidney disease 1 and 2 genes (<jats:italic>PKD1<\/jats:italic> and <jats:italic>PKD2)<\/jats:italic> were absent. Sequencing of the <jats:italic>SRCAP<\/jats:italic> gene demonstrated a de novo mutation matching one of the known FHS\u2010associated mutations. The patient required treatment with anti\u2010hypertensives and will require lifelong renal monitoring. We suggest this patient's presentation may be due to the pleiotropic effects of <jats:italic>SRCAP<\/jats:italic> mutations. Further, the protein encoded by <jats:italic>SRCAP<\/jats:italic> is known to interact with CREB\u2010binding protein, the product of the gene mutated in Rubinstein\u2013Taybi syndrome, which is associated with renal abnormalities. A literature review of the renal findings in patients with Floating\u2013Harbor syndrome identified another patient with possible polycystic kidneys, two patients with early onset hypertension, and a young patient with a ruptured intracranial aneurysm, which can be a feature of classic adult polycystic kidney disease. Collectively, these findings suggest that all patients with Floating\u2013Harbor syndrome should undergo regular blood pressure monitoring and screening for polycystic kidneys by ultrasound at the time of the FHS diagnosis with imaging to be repeated during adulthood if a childhood ultrasound was negative. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35635","type":"journal-article","created":{"date-parts":[[2012,11,20]],"date-time":"2012-11-20T05:08:55Z","timestamp":1353388135000},"page":"3196-3200","source":"Crossref","is-referenced-by-count":26,"title":["Floating\u2013Harbor syndrome and polycystic kidneys associated with <i>SRCAP<\/i> mutation"],"prefix":"10.1002","volume":"158A","author":[{"given":"Michael","family":"Reschen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Usha","family":"Kini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca L.","family":"Hood","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kym M.","family":"Boycott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane","family":"Hurst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher A.","family":"O'Callaghan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,11,19]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2008.11.002"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380413"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31159"},{"key":"e_1_2_8_5_1","first-page":"227","article-title":"Floating\u2010Harbor syndrome: First case in Italy associated with growth hormone deficiency","volume":"52","author":"Femiano P","year":"2000","journal-title":"Minerva Pediatr"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33033"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.001"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.23.16370"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961218)66:3<300::AID-AJMG12>3.0.CO;2-Q"},{"key":"e_1_2_8_10_1","first-page":"305","article-title":"The Floating\u2010Harbor syndrome","volume":"11","author":"Leisti J","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-150-9-200905050-00006"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0090-4295(87)90242-1"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33014"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328306a38d"},{"key":"e_1_2_8_15_1","first-page":"8","article-title":"Case report 1","volume":"1","author":"Pelletier G","year":"1973","journal-title":"Syndr Ident"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi060043d"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2007.20.12.1333"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)60601-1"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33294"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jhh.1001683"},{"key":"e_1_2_8_21_1","first-page":"752","article-title":"The Floating Harbor\u2010Homburg syndrome","volume":"132","author":"Zabransky S","year":"1984","journal-title":"Monatsschr Kinderheilkd"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35635","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35635","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T12:45:11Z","timestamp":1697633111000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35635"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,19]]},"references-count":20,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["10.1002\/ajmg.a.35635"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35635","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,19]]}}}