{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T20:14:30Z","timestamp":1790280870177,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,3,28]],"date-time":"2019-03-28T00:00:00Z","timestamp":1553731200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Warsaw Breakage Syndrome (WABS) is an ultra rare cohesinopathy caused by biallelic mutation of <jats:italic>DDX11<\/jats:italic> gene. It is clinically characterized by pre and postnatal growth delay, microcephaly, hearing loss with cochlear hypoplasia, skin color abnormalities, and dysmorphisms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Mutational screening and functional analyses (protein expression and 3D\u2010modeling) were performed in order to investigate the presence and pathogenicity of DDX11 variant identified in our patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We report the clinical history of two sisters affected by WABS with a pathological mytomicin C test carrying compound heterozygous mutations (c.2507T\u00a0&gt;\u00a0C \/ c.907_920del) of the <jats:italic>DDX11<\/jats:italic> gene. The pathogenicity of this variant was confirmed in the light of a bioinformatic study and protein three\u2010dimensional modeling, as well as expression analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These findings further extend the clinical and molecular knowledge about the WABS showing a possible mild phenotype without major malformations or intellectual disability.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.639","type":"journal-article","created":{"date-parts":[[2019,3,29]],"date-time":"2019-03-29T04:09:16Z","timestamp":1553832556000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7431-7543","authenticated-orcid":false,"given":"Roberta","family":"Bottega","sequence":"first","affiliation":[{"name":"Institute for Maternal and Child Health \u2013 IRCCS \u201cBurlo Garofolo\u201d Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa M. R.","family":"Napolitano","sequence":"additional","affiliation":[{"name":"Structural Biology Laboratory Elettra\u2010Sincrotrone Trieste S.C.p.A. Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Carbone","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Citt\u00e0 della Salute e della Scienza University Hospital Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Cappelli","sequence":"additional","affiliation":[{"name":"Clinical and Experimental Hematology Unit \u201cG. Gaslini\u201d Children\u2019s Hospital Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Corsolini","sequence":"additional","affiliation":[{"name":"U.O.S.D. Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche \u201cG. Gaslini\u201d Children\u2019s Hospital Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Onesti","sequence":"additional","affiliation":[{"name":"Structural Biology Laboratory Elettra\u2010Sincrotrone Trieste S.C.p.A. Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Savoia","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health \u2013 IRCCS \u201cBurlo Garofolo\u201d Trieste Italy"},{"name":"Department of Medical Science University of Trieste Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Gasparini","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health \u2013 IRCCS \u201cBurlo Garofolo\u201d Trieste Italy"},{"name":"Department of Medical Science University of Trieste Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavio","family":"Faletra","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health \u2013 IRCCS \u201cBurlo Garofolo\u201d Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,3,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40482"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.02.001"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.24510"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-014-1569-4"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2017.176131"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22226"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38382"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.13.4411"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2012.085"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2011.374"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep25441"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/msb.2011.75"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv213"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.008"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.639","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.639","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.639","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T14:48:55Z","timestamp":1694357335000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.639"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,28]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["10.1002\/mgg3.639"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.639","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3,28]]},"assertion":[{"value":"2018-11-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-02-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-03-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e639"}}