12q24.33 deletion: Report of a patient with intellectual disability and review of the literature. Issue 6 (23rd April 2013)

• Record Type: Journal Article
• Authors: Kehrer, Martin; Singer, Sylke; Grasshoff, Ute; Schäferhoff, Karin; Bonin, Michael; Riess, Olaf; Schöning, Martin; Tzschach, Andreas
• Is Part Of: American journal of medical genetics. Volume 161:Issue 6(2013:Jun.)
• Page Start: 1409
• Page End: 1413
• Publication Date: 2013-04-23
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35877
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga35877-sec-0001" sec-type="section"> <p>Deletions of chromosome band 12q24.33 are rare. We report on a 17‐year‐old male patient with intellectual disability but no major malformations or dysmorphic features in whom a de novo interstitial 660 kb deletion in 12q24.33 was detected by SNP array analysis. This deletion was secondary to a translocation t(12;14)(q24.3;q13)dn that also led to a small deletion in 14q21.1 and a small duplication in 2p23.1. The deletion overlaps with two previously published larger deletions in patients who suffered from intellectual disability, obesity, and polycystic kidney disease, indicating that haploinsufficiency of one or several of the genes in the deleted interval of the patient reported here causes intellectual deficits, but not obesity or renal problems. The 14 RefSeq genes that are harbored by this deletion include <italic>P2RX2</italic>, which had previously been proposed as a candidate gene for intellectual disability. Thus, the patient reported here broadens our knowledge of the phenotypic consequences of deletions in 12q24.33 and facilitates genotype–phenotype correlations for chromosome aberrations of this region. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>