{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,15]],"date-time":"2026-02-15T21:26:08Z","timestamp":1771190768350,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2017,6,22]],"date-time":"2017-06-22T00:00:00Z","timestamp":1498089600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["Initiative on Rare and Undiagnosed Diseases"],"award-info":[{"award-number":["Initiative on Rare and Undiagnosed Diseases"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["16ek0109166h0002"],"award-info":[{"award-number":["16ek0109166h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["Research on Rare and Intractable Diseases"],"award-info":[{"award-number":["Research on Rare and Intractable Diseases"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Skeletal overgrowth is a characteristic of several genetic disorders that are linked to specific molecular signaling cascades. Recently, we established a novel overgrowth syndrome (Kosaki overgrowth syndrome, OMIM #616592) arising from a de novo mutation in <jats:italic>PDGFRB<\/jats:italic>, that is, c.1751C&gt;G p.(Pro584Arg). Subsequently, other investigators provided in vitro molecular evidence that this specific mutation in the juxtamembrane domain of <jats:italic>PDGFRB<\/jats:italic> causes an overgrowth phenotype and is the first gain\u2010of\u2010function point mutation of <jats:italic>PDGFRB<\/jats:italic> to be reported in humans. Here, we report the identification of a mutation in <jats:italic>PDGFRB<\/jats:italic>, c.1696T&gt;C p.(Trp566Arg), in two unrelated patients with skeletal overgrowth, further confirming the existence of PDGFRB\u2010related overgrowth syndrome arising from mutations in the juxtamembrane domain of <jats:italic>PDGFRB<\/jats:italic>. A review of all four of these patients with an overgrowth phenotype and <jats:italic>PDGFRB<\/jats:italic> mutations revealed postnatal skeletal overgrowth, premature aging, cognitive impairment, neurodegeneration, and a prominent connective tissue component to this complex phenotype. From a functional standpoint, hypermorphic mutations in <jats:italic>PDGFRB<\/jats:italic> lead to Kosaki overgrowth syndrome, infantile myofibromatosis (OMIM #228550), and Penttinen syndrome (OMIM #601812), whereas hypomorphic mutations lead to idiopathic basal ganglia calcification (OMIM #615007). In conclusion, a specific class of mutations in <jats:italic>PDGFRB<\/jats:italic> causes a clinically recognizable syndromic form of skeletal overgrowth.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38310","type":"journal-article","created":{"date-parts":[[2017,6,22]],"date-time":"2017-06-22T10:06:40Z","timestamp":1498126000000},"page":"2422-2427","source":"Crossref","is-referenced-by-count":34,"title":["Expansion of the phenotype of Kosaki overgrowth syndrome"],"prefix":"10.1002","volume":"173","author":[{"given":"Mari","family":"Minatogawa","sequence":"first","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7311-4135","authenticated-orcid":false,"given":"Toshiki","family":"Takenouchi","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"},{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Tsuyusaki","sequence":"additional","affiliation":[{"name":"Department of Neurology Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuminori","family":"Iwasaki","sequence":"additional","affiliation":[{"name":"Department of Hemato\u2010Oncology and Regenerative Medicine Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoko","family":"Uehara","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Kurosawa","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia J.","family":"Curry","sequence":"additional","affiliation":[{"name":"Genetic Medicine, Community Regional Medical Center University of California San Francisco\/Fresno Fresno California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,6,22]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"295","volume-title":"Congenital anomalies of the upper extremity: Etiology and management","author":"Abdel\u2010Rehim S.","year":"2014"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12680"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2015.383"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.026"},{"key":"e_1_2_6_6_1","volume-title":"Overgrowth Syndromes","author":"Cohen M. 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