{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T15:51:26Z","timestamp":1789919486653,"version":"4.0.1"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T00:00:00Z","timestamp":1390435200000},"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":[[2014,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Interstitial deletion of 2q24.2 is a rarely described cytogenetic aberration in patients with intellectual disability (ID). Previously reported genotype\u2013phenotype correlation identified a minimum deleted region of 2.65\u2009Mb including 15 genes. Recently, a patient with a de novo 2q24.2 microdeletion of 0.4\u2009Mb encompassing only three genes was described. However, the precise relationship between most deleted genes and the clinical features remains unclear. Here we describe a 12\u2010year\u2010old male patient diagnosed with growth retardation and ID. He also showed microcephaly, right palpebral ptosis, scapular winging, and pectus excavatum. Single nucleotide polymorphisms (SNP) array analysis showed a de novo interstitial deletion of 0.122\u2009Mb at 2q24.2 region harboring only <jats:italic>TBR1<\/jats:italic> (T\u2010box, brain, 1; OMIM: 604616), which encodes a T\u2010box family transcription factor expressed in post\u2010mitotic projection neurons and functionally significant in embryologic corticogenesis. This is the first case of a deletion at 2q24.2 involving only <jats:italic>TBR1<\/jats:italic>. This finding narrows the smallest region of overlap (SRO) for deletions in this region and strengthens the previously suggested hypothesis that this gene is a strong candidate for the ID phenotype. The identification of <jats:italic>TBR1<\/jats:italic> as candidate for ID encourages further molecular studies to identify novel mutations to understand the pathogenic effects of its haploinsufficiency. Finally, this report provides a review on 10 2q24.2 microdeletion patients. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36363","type":"journal-article","created":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T23:45:41Z","timestamp":1390520741000},"page":"828-833","source":"Crossref","is-referenced-by-count":47,"title":["<i>TBR1<\/i> is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion"],"prefix":"10.1002","volume":"164","author":[{"given":"Orazio","family":"Palumbo","sequence":"first","affiliation":[{"name":"Medical Genetics Unit IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo (FG) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Fichera","sequence":"additional","affiliation":[{"name":"Medical Genetics University of Catania Catania 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Catania Universit\u00e0 di Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Carella","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo (FG) Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Mattina","sequence":"additional","affiliation":[{"name":"Medical Genetics University of Catania Catania 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