{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T20:14:31Z","timestamp":1790280871358,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,9,28]],"date-time":"2017-09-28T00:00:00Z","timestamp":1506556800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>We present two new cases of Warsaw Breakage Syndrome (WABS), an autosomal recessive cohesinopathy, in sisters aged 13 and 11 years who both had compound heterozygous mutations in <jats:italic>DDX11<\/jats:italic>. After exclusion of Fanconi anemia, Bloom syndrome and Nijmegen breakage syndrome, whole exome sequencing revealed two novel variants\u2014c.1523T&gt;G, predicting (p.Leu508Arg) and c.1949\u20101G&gt;A (IVS19\u20101G&gt;A), that were confirmed with Sanger sequencing in both affected individuals. <jats:italic>DDX11<\/jats:italic> encodes an iron\u2010sulfur\u2010containing DNA helicase, and mutations in this gene have been reported in the five WABS cases previously identified to date. The sisters reported here display the distinguishing clinical features of WABS: pre\u2010 and post\u2010natal growth restriction, microcephaly, intellectual disability, sensorineural hearing loss with cochlear abnormalities, and facial dysmorphic features. In addition, our cases had early menarche at 8 and 10 years of age, bilateral small thumbs, and the younger, more severely affected sister had small fibulae. These findings broaden the WABS phenotype and the limb malformations demonstrate further clinical overlap with Fanconi anemia and other cohesinopathies, such as Roberts Syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38382","type":"journal-article","created":{"date-parts":[[2017,9,28]],"date-time":"2017-09-28T16:15:49Z","timestamp":1506615349000},"page":"3075-3081","source":"Crossref","is-referenced-by-count":23,"title":["Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae"],"prefix":"10.1002","volume":"173","author":[{"given":"Sarah","family":"Eppley","sequence":"first","affiliation":[{"name":"Division of Genetics Department of Pediatrics University of California San Francisco California"},{"name":"UC Berkeley\u2014UCSF Joint Medical Program (JMP) School of Public Health Berkeley California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Hopkin","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Department of Pediatrics Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryce","family":"Mendelsohn","sequence":"additional","affiliation":[{"name":"Division of Genetics Department of Pediatrics University of California San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7053-2449","authenticated-orcid":false,"given":"Anne M.","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Division of Genetics Department of Pediatrics University of California San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,9,28]]},"reference":[{"key":"e_1_2_2_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.02.001"},{"key":"e_1_2_2_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-014-1569-4"},{"key":"e_1_2_2_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22226"},{"key":"e_1_2_2_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/28.4.917"},{"key":"e_1_2_2_6_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.13.4411"},{"key":"e_1_2_2_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.14604"},{"key":"e_1_2_2_8_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.03262"},{"key":"e_1_2_2_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv213"},{"key":"e_1_2_2_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.008"},{"key":"e_1_2_2_11_1","doi-asserted-by":"publisher","DOI":"10.1155\/2010\/565268"},{"key":"e_1_2_2_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-008-8580-6"},{"key":"e_1_2_2_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.276022"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38382","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38382","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T06:16:55Z","timestamp":1696573015000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38382"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,28]]},"references-count":12,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1002\/ajmg.a.38382"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38382","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9,28]]}}}