{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:53:42Z","timestamp":1787010822821,"version":"build-2736575974"},"reference-count":19,"publisher":"Cold Spring Harbor Laboratory","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:p>\n                    Mutations in\n                    <jats:italic>FGD1<\/jats:italic>\n                    cause Aarskog\u2013Scott syndrome (AAS), an X-linked condition characterized by abnormal facial, skeletal, and genital development due to abnormal embryonic morphogenesis and skeletal formation. Here we report a novel\n                    <jats:italic>FGD1<\/jats:italic>\n                    mutation in a family with atypical features of AAS, specifically bilateral upper and lower limb congenital joint contractures and cardiac abnormalities. The male proband and his affected maternal uncle are hemizygous for the novel\n                    <jats:italic>FGD1<\/jats:italic>\n                    mutation p.Arg921X. This variant is the most carboxy-terminal\n                    <jats:italic>FGD1<\/jats:italic>\n                    mutation identified in a family with AAS and is predicted to truncate the FGD1 protein at the second to last amino acid of the carboxy-terminal pleckstrin homology (PH) domain. Our study emphasizes the importance of the 3\u2032 peptide sequence in the structure and\/or function of the FGD1 protein and further demonstrates the need to screen patients with X-linked congenital joint contractures for\n                    <jats:italic>FGD1<\/jats:italic>\n                    mutations.\n                  <\/jats:p>","DOI":"10.1101\/mcs.a000943","type":"journal-article","created":{"date-parts":[[2016,4,22]],"date-time":"2016-04-22T12:48:33Z","timestamp":1461329313000},"page":"a000943","source":"Crossref","is-referenced-by-count":7,"title":["A novel\n                    <i>FGD1<\/i>\n                    mutation in a family with Aarskog\u2013Scott syndrome and predominant features of congenital joint contractures"],"prefix":"10.1101","volume":"2","author":[{"given":"Laurie Beth","family":"Griffin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances A.","family":"Farley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Antonellis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine E.","family":"Keegan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2016,4,13]]},"reference":[{"key":"2021112506100696000_2.4.a000943.1","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1097\/MCD.0b013e32835b6dc4","article-title":"Novel FGD1 mutation underlying Aarskog\u2013Scott syndrome with myopathy and distal arthropathy","volume":"22","year":"2013","journal-title":"Clin Dysmorphol"},{"key":"2021112506100696000_2.4.a000943.2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1942"},{"key":"2021112506100696000_2.4.a000943.3","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.ejmg.2008.12.001","article-title":"First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog\u2013Scott syndrome","volume":"52","year":"2009","journal-title":"Eur J Med Genet"},{"key":"2021112506100696000_2.4.a000943.4","doi-asserted-by":"crossref","first-page":"2334","DOI":"10.1002\/ajmg.a.31733","article-title":"Unilateral focal polymicrogyria in a patient with classical Aarskog\u2013Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1","volume":"143A","year":"2007","journal-title":"Am J Med Genet A"},{"key":"2021112506100696000_2.4.a000943.5","doi-asserted-by":"publisher","DOI":"10.1172\/JCI1976"},{"key":"2021112506100696000_2.4.a000943.6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.5.485"},{"key":"2021112506100696000_2.4.a000943.7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500404"},{"key":"2021112506100696000_2.4.a000943.8","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0177(2000)9999:9999<::AID-DVDY1015>3.0.CO;2-F"},{"key":"2021112506100696000_2.4.a000943.9","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610209.x"},{"key":"2021112506100696000_2.4.a000943.10","doi-asserted-by":"publisher","DOI":"10.1510\/icvts.2004.089672"},{"key":"2021112506100696000_2.4.a000943.11","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(00)01857-3"},{"key":"2021112506100696000_2.4.a000943.12","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201081"},{"key":"2021112506100696000_2.4.a000943.13","first-page":"58","article-title":"Unusually severe expression of craniofacial features in Aarskog\u2013Scott syndrome due to a novel truncating mutation of the FGD1 gene","volume":"143","year":"2007","journal-title":"Am J Med Genet A"},{"key":"2021112506100696000_2.4.a000943.14","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1002\/ajmg.a.33199","article-title":"Aarskog\u2013Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene","volume":"152A","year":"2010","journal-title":"Am J Med Genet A"},{"key":"2021112506100696000_2.4.a000943.15","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.108"},{"key":"2021112506100696000_2.4.a000943.16","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90552-5"},{"key":"2021112506100696000_2.4.a000943.17","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/mgg3.132","article-title":"Identification of novel mutations in Mexican patients with Aarskog\u2013Scott syndrome","volume":"3","year":"2015","journal-title":"Mol Genet Genomic Med"},{"key":"2021112506100696000_2.4.a000943.18","doi-asserted-by":"publisher","DOI":"10.1097\/01.blo.0000224062.39990.48"},{"key":"2021112506100696000_2.4.a000943.19","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200553"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a000943","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,25]],"date-time":"2021-11-25T09:10:32Z","timestamp":1637831432000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a000943"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4,13]]},"references-count":19,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2016,7,1]]},"published-print":{"date-parts":[[2016,7]]}},"alternative-id":["10.1101\/mcs.a000943"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a000943","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"value":"2373-2865","type":"print"},{"value":"2373-2873","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,4,13]]}}}