{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T21:20:01Z","timestamp":1793827201084,"version":"4.6.1"},"reference-count":17,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,9,22]],"date-time":"2014-09-22T00:00:00Z","timestamp":1411344000000},"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":[[2014,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Here, we report on a male patient with developmental delay, speech impairment, mild dysmorphic features, and borderline intellectual disability, bearing a de novo balanced t(5;6)(q11;q25.3). By combining FISH and long distance inverse PCR, we identified two genes, <jats:italic>ADAMTS6<\/jats:italic> and <jats:italic>ARID1B<\/jats:italic>, which were disrupted at the translocation breakpoints. Due to the opposing transcriptional directions of the two genes, no fusion transcripts could be formed. <jats:italic>ADAMTS6<\/jats:italic> on chromosome 5 encodes a zinc metalloprotease. To date, there has been no information about the substrates and the exact role of this enzyme protein. <jats:italic>ARID1B<\/jats:italic> on chromosome 6 is involved in chromatin remodeling and transcriptional activation and is known to play a role in neural development. To our knowledge, this is the fourth translocation involving <jats:italic>ARID1B<\/jats:italic> reported in association with intellectual disability. <jats:italic>ARID1B<\/jats:italic> haploinsufficiency has already been described in patients with intellectual disabilities with or without corpus callosum abnormalities, Coffin\u2013Siris syndrome and autism (OMIM 614562 and OMIM 614556). A review of patients with <jats:italic>ARID1B<\/jats:italic> mutations reveals their broad phenotypic variability. The phenotype of the present patient is of the mildest described to date and further underscores this observation. We conclude that the most prominent and consistent clinical findings in patients with <jats:italic>ARID1B<\/jats:italic> haploinsufficiency are developmental delay, speech impairment and intellectual disability and propose that patients with unresolved genetic background and these clinical findings should be considered for <jats:italic>ARID1B<\/jats:italic> mutation screening. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36738","type":"journal-article","created":{"date-parts":[[2014,9,22]],"date-time":"2014-09-22T20:54:23Z","timestamp":1411419263000},"page":"3126-3131","source":"Crossref","is-referenced-by-count":14,"title":["Disruption of the <i>ARID1B<\/i> and <i>ADAMTS6<\/i> loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay"],"prefix":"10.1002","volume":"164","author":[{"given":"Theodora","family":"Malli","sequence":"first","affiliation":[{"name":"Laboratory for Molecular Biology and Tumor Cytogenetics Department of Internal Medicine I Hospital Barmherzige Schwestern Linz Upper Austria Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans\u2010Christoph","family":"Duba","sequence":"additional","affiliation":[{"name":"Department of Human Genetics General Women's and Children's Hospital Linz Upper Austria Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Erdel","sequence":"additional","affiliation":[{"name":"Laboratory for Molecular Biology and Tumor Cytogenetics Department of Internal Medicine I Hospital Barmherzige Schwestern Linz Upper Austria Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renate","family":"Marschon","sequence":"additional","affiliation":[{"name":"Laboratory for Molecular Biology and Tumor Cytogenetics Department of Internal Medicine I Hospital Barmherzige Schwestern Linz Upper Austria Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Kranewitter","sequence":"additional","affiliation":[{"name":"Laboratory for Molecular Biology and Tumor Cytogenetics Department of Internal Medicine I Hospital Barmherzige Schwestern Linz Upper Austria Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Deutschbauer","sequence":"additional","affiliation":[{"name":"Laboratory for Molecular Biology and Tumor Cytogenetics Department of Internal Medicine I Hospital Barmherzige Schwestern Linz Upper Austria Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Kralik","sequence":"additional","affiliation":[{"name":"Laboratory for Molecular Biology and Tumor Cytogenetics Department of Internal Medicine I Hospital Barmherzige Schwestern Linz Upper Austria Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evita","family":"Diel","sequence":"additional","affiliation":[{"name":"Outpatient Clinic of the VKKJ Amstetten Amstetten Lower Austria Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"G\u00fcenther","sequence":"additional","affiliation":[{"name":"Department of Human Genetics General Women's and Children's Hospital Linz Upper Austria Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doris","family":"Mueller","sequence":"additional","affiliation":[{"name":"Department of Human Genetics General Women's and Children's Hospital Linz Upper Austria Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerald","family":"Webersinke","sequence":"additional","affiliation":[{"name":"Laboratory for Molecular Biology and Tumor Cytogenetics Department of Internal Medicine I Hospital Barmherzige Schwestern Linz Upper Austria Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,9,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000321577"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2005.06.011"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01755.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08911"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.007"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.36.25555"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.11433"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-59745-418-6_5"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1204331"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.24"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2217"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-43"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2219"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20040524"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc3068"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1634\/stemcells.2007-0846"}],"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.36738","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36738","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T12:29:12Z","timestamp":1696595352000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36738"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,22]]},"references-count":17,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["10.1002\/ajmg.a.36738"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36738","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,22]]}}}