{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:20:29Z","timestamp":1787242829421,"version":"build-2736575974"},"reference-count":8,"publisher":"Cold Spring Harbor Laboratory","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:p>\n                    Two sisters (ages 16 yr and 15 yr) have been followed by our clinical genetics team for several years. Both girls have severe intellectual disability, hypotonia, seizures, and distinctive craniofacial features. The parents are healthy and have no other children. Oligo array, fragile X testing, and numerous single-gene tests were negative. All four family members underwent research exome sequencing, which revealed a heterozygous nonsense mutation in\n                    <jats:italic>ASXL3<\/jats:italic>\n                    (p.R1036X) that segregated with disease. Exome data and independent Sanger sequencing confirmed that the variant is de novo, suggesting possible germline mosaicism in one parent. The p.R1036X variant has never been observed in healthy human populations and has been previously reported as a pathogenic mutation. Truncating de novo mutations in ASXL3 cause Bainbridge\u2013Ropers syndrome (BRPS), a developmental disorder with similarities to Bohring\u2013Opitz syndrome. Fewer than 30 BRPS patients have been described in the literature; to our knowledge, this is the first report of the disorder in two related individuals. Our findings lend further support to intellectual disability, absent speech, autistic traits, hypotonia, and distinctive facial appearance as common emerging features of Bainbridge\u2013Ropers syndrome.\n                  <\/jats:p>","DOI":"10.1101\/mcs.a002410","type":"journal-article","created":{"date-parts":[[2018,1,5]],"date-time":"2018-01-05T20:45:37Z","timestamp":1515185137000},"page":"a002410","source":"Crossref","is-referenced-by-count":42,"title":["A de novo nonsense mutation in\n                    <i>ASXL3<\/i>\n                    shared by siblings with Bainbridge\u2013Ropers syndrome"],"prefix":"10.1101","volume":"4","author":[{"given":"Daniel C.","family":"Koboldt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theresa","family":"Mihalic Mosher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin J.","family":"Kelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Sites","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis","family":"Bartholomew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott E.","family":"Hickey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim","family":"McBride","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard K.","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"White","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2018,1,5]]},"reference":[{"key":"2021112506142700000_4.3.a002410.1","doi-asserted-by":"publisher","DOI":"10.1186\/gm415"},{"key":"2021112506142700000_4.3.a002410.2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104360"},{"key":"2021112506142700000_4.3.a002410.3","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8794-6-32"},{"key":"2021112506142700000_4.3.a002410.4","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-014-0577-x"},{"key":"2021112506142700000_4.3.a002410.5","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1038\/ejhg.2016.165","article-title":"Bainbridge\u2013Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition","volume":"25","year":"2017","journal-title":"Eur J Hum Genet"},{"key":"2021112506142700000_4.3.a002410.6","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"2021112506142700000_4.3.a002410.7","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq559"},{"key":"2021112506142700000_4.3.a002410.8","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv499"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a002410","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,25]],"date-time":"2021-11-25T09:14:35Z","timestamp":1637831675000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a002410"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,5]]},"references-count":8,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2018,6,1]]},"published-print":{"date-parts":[[2018,6]]}},"alternative-id":["10.1101\/mcs.a002410"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a002410","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"value":"2373-2865","type":"print"},{"value":"2373-2873","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1,5]]}}}