{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T07:16:34Z","timestamp":1763018194547,"version":"3.40.5"},"reference-count":29,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,6,7]],"date-time":"2020-06-07T00:00:00Z","timestamp":1591488000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Baraitser\u2013Winter cerebrofrontofacial syndrome (BWCS) is a rare, autosomal dominant condition that is characterized by intellectual disability, distinctive craniofacial features, structural brain abnormalities, seizures, microcephaly, hearing loss, and ocular colobomas. The first three cases were described in 1988 by Baraitser and Winter and included two siblings and an unrelated third patient. Subsequently, causative missense variants in the <jats:italic>ACTB<\/jats:italic> and <jats:italic>ACTG1<\/jats:italic> genes were identified, with de novo occurrence in patients with the condition. Herein, we describe two adult siblings who were born to unaffected parents and who were diagnosed with BWCS in their fourth and sixth decade of life following exome sequencing performed for intellectual disability. We review the literature reports of adult patients with BWCS to document the clinical features and phenotypic variability that can occur later in life. This is the first molecularly confirmed report of germline mosaicism in BWCS and one of only a few reports to describe two BWCS patients belonging to the same family.<\/jats:p>","DOI":"10.1002\/ajmg.a.61637","type":"journal-article","created":{"date-parts":[[2020,6,7]],"date-time":"2020-06-07T13:06:42Z","timestamp":1591535202000},"page":"1923-1932","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp>Baraitser\u2013Winter<\/scp> cerebrofrontofacial syndrome: Report of two adult siblings"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5655-5094","authenticated-orcid":false,"given":"Karly","family":"Hampshire","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of California San Francisco  San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre\u2010Marie","family":"Martin","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics University of California San Francisco  San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2901-8610","authenticated-orcid":false,"given":"Colleen","family":"Carlston","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of California San Francisco  San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7053-2449","authenticated-orcid":false,"given":"Anne","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of California San Francisco  San Francisco California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,6,7]]},"reference":[{"issue":"2","key":"e_1_2_10_2_1","first-page":"107","article-title":"The clinical manifestations and genetic implications of Baraitser\u2013Winter syndrome type 2","volume":"6","author":"Allawh T. C.","year":"2017","journal-title":"Journal of Pediatric Genetics"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.1.41"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.173"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38057"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebcr.2017.03.003"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.11.006"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200104000-00003"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37771"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.130"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26842"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12854"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2016.1164196"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-06713-0"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq559"},{"key":"e_1_2_10_16_1","unstructured":"National Center for Biotechnology Information(2020). ClinVar [VCV000265318.3]. Retrieved fromhttps:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/VCV000265318.3."},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23246"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570308"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1016"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1091"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000492267"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000197"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.09.008"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689-018-9235-z"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37651"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.95"},{"key":"e_1_2_10_29_1","unstructured":"Verloes A. Drunat S. Pilz D. diDonato N.. Baraitser\u2013Winter cerebrofrontofacial syndrome. (2015b). GeneReviews. Retrieved fromhttps:\/\/www.ncbi.nlm.nih.gov\/books\/NBK327153\/."},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12864"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61637","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61637","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61637","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T09:17:45Z","timestamp":1693905465000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61637"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,7]]},"references-count":29,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["10.1002\/ajmg.a.61637"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61637","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2020,6,7]]},"assertion":[{"value":"2020-02-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}