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12q24.33 deletion: Report of a patient with intellectual disability and review of the literature
Author(s) -
Kehrer Martin,
Singer Sylke,
Grasshoff Ute,
Schäferhoff Karin,
Bonin Michael,
Riess Olaf,
Schöning Martin,
Tzschach Andreas
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35877
Subject(s) - intellectual disability , haploinsufficiency , genetics , biology , phenotype , gene duplication , gene , chromosome , bioinformatics
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 P2RX2 , 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.