{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:51:08Z","timestamp":1764172268854,"version":"3.37.3"},"reference-count":13,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2017,6,2]],"date-time":"2017-06-02T00:00:00Z","timestamp":1496361600000},"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":[[2017,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Recently, a new syndrome with intellectual disability (ID) and dysmorphic features due to deletions or point mutations within the TBL1XR1 gene located in the chromosomal band 3q26.32 has been described (MRD41, OMIM 616944). One recurrent point mutation in the TBL1XR1 gene has been identified as the cause of Pierpont syndrome (OMIM 602342), a distinct intellectual disability syndrome with plantar lipomatosis. In addition, different de novo point mutations in the TBL1XR1 gene have been found in patients with autism spectrum disorders (ASD) and intellectual disability. Here, we report four patients from two unrelated families in whom array\u2010CGH analysis and real\u2010time quantitative PCR of genomic DNA revealed a TBL1XR1\u2010microduplication. Adjacent genes were not affected. The microduplication occurred as a de novo event in one patient, whereas the other three cases occurred in two generations of a second, unrelated family. We compare and contrast the clinical findings in TBL1XR1 microdeletion, point mutation, and microduplication cases and expand the TBL1XR1\u2010associated phenotypic spectrum. ID, hearing loss, and ASD are common features of TBL1XR1\u2010associated diseases. Our clinical observations add to the increasing evidence of the role of TBL1XR1 in brain development, and they simultaneously demonstrate that different genetic disease mechanisms affecting TBL1XR1 can lead to similar ID phenotypes. The TBL1XR1\u2010microduplication syndrome is an intellectual disability\/learning disability syndrome with associated incomplete penetrance ASD, hearing loss, and delay of puberty. Its phenotypic overlap indicates that it is a genomic sister\u2010disorder to the 3q26.32 microdeletion syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38285","type":"journal-article","created":{"date-parts":[[2017,6,2]],"date-time":"2017-06-02T12:06:58Z","timestamp":1496405218000},"page":"2132-2138","source":"Crossref","is-referenced-by-count":14,"title":["A heritable microduplication encompassing <i>TBL1XR1<\/i> causes a genomic sister\u2010disorder for the 3q26.32 microdeletion syndrome"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2276-9983","authenticated-orcid":false,"given":"Vera","family":"Riehmer","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University Hospital of Cologne Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florian","family":"Erger","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital of Cologne Cologne Germany"},{"name":"Center for Molecular Medicine Cologne (CMMC) University of Cologne Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Herkenrath","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology University Hospital of Cologne Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saskia","family":"Seland","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital of Cologne Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam","family":"Jackels","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology University Hospital of Cologne Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfred","family":"Wiater","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Porz Hospital Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raoul","family":"Heller","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital of Cologne Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bodo B.","family":"Beck","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital of Cologne Cologne Germany"},{"name":"Center for Molecular Medicine Cologne (CMMC) University of Cologne Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Netzer","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital of Cologne Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,6,2]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/895259"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37684"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12848"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103233"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-2531"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1227764"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10989"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(04)00133-3"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980106)75:1<18::AID-AJMG5>3.0.CO;2-M"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36759"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.71"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36619"}],"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.38285","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38285","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T06:02:02Z","timestamp":1696572122000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38285"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6,2]]},"references-count":13,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2017,8]]}},"alternative-id":["10.1002\/ajmg.a.38285"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38285","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2017,6,2]]}}}