{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T16:19:57Z","timestamp":1780503597844,"version":"3.54.1"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,12,20]],"date-time":"2013-12-20T00:00:00Z","timestamp":1387497600000},"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":[[2014,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Floating\u2013Harbor syndrome (FHS) is a rare autosomal dominant disorder characterized by short stature, skeletal malformations, speech delay, and dysmorphic facial appearance. Recently, mutations in <jats:italic>SRCAP<\/jats:italic> encoding a coactivator for cAMP\u2010response element binding protein (CREB)\u2010binding protein have been identified in small number of patients with FHS. Here, we report on long\u2010term follow\u2010up data of a male patient with a <jats:italic>SRCAP<\/jats:italic> mutation. The patient presented with mild hypothyroidism and renal hypouricemia, in addition to several FHS\u2010compatible features including growth impairment, cognitive disability, facial dysmorphisms, and hypertension. He showed delayed bone age from infancy to 9 years of age and markedly accelerated bone age with the formation of cone\u2010shaped epiphyses and early epiphysial fusions after the onset of puberty. His pubertal sexual development was almost age appropriate. Two\u2010year treatment with growth hormone (GH) did not significantly improve the growth velocity. Molecular analysis identified a de novo heterozygous nonsense mutation (p.R2444X) in the last exon of <jats:italic>SRCAP<\/jats:italic>, which has been most common mutation detected in patients from other ethnic groups. These results indicate that perturbed skeletal maturation from infancy through adolescence is a characteristic feature in patients with <jats:italic>SRCAP<\/jats:italic> mutations. Furthermore, our data imply that GH therapy exerted only a marginal effect on the growth of this patient, and that renal hypouricemia may be a novel complication of FHS. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36314","type":"journal-article","created":{"date-parts":[[2013,12,21]],"date-time":"2013-12-21T00:55:23Z","timestamp":1387587323000},"page":"731-735","source":"Crossref","is-referenced-by-count":15,"title":["Long\u2010term follow\u2010up study for a patient with Floating\u2013Harbor syndrome due to a hotspot <i>SRCAP<\/i> mutation"],"prefix":"10.1002","volume":"164","author":[{"given":"Keisuke","family":"Nagasaki","sequence":"first","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan"},{"name":"Division of Pediatrics Department of Homeostatic Regulation and Development Niigata University Graduate School of Medical and Dental Sciences Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadashi","family":"Asami","sequence":"additional","affiliation":[{"name":"Faculty of Nursing, Social Welfare, and Psychology, Department of Nursing Niigata Seiryo University Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidetoshi","family":"Sato","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Department of Homeostatic Regulation and Development Niigata University Graduate School of Medical and Dental Sciences Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yohei","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Department of Homeostatic Regulation and Development Niigata University Graduate School of Medical and Dental Sciences Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toru","family":"Kikuchi","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Department of Homeostatic Regulation and Development Niigata University Graduate School of Medical and Dental Sciences Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiko","family":"Saitoh","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Department of Homeostatic Regulation and Development Niigata University Graduate School of Medical and Dental Sciences Niigata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan"},{"name":"Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology National Research Institute for Child Health and Development Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,12,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-8529(05)70151-1"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.001"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01021.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.23.16370"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22216"},{"key":"e_1_2_7_7_1","first-page":"305","article-title":"The Floating\u2013Harbor syndrome","volume":"11","author":"Leisti J","year":"1975","journal-title":"Birth Defects Orig Artic 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