title: 12q24.33 deletion: report of a patient with intellectual disability and review of the literature.
abstract: 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.
authors.affiliation: Institute of Human Genetics, University of Tuebingen, and University Children's Hospital, Tuebingen, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Kehrer
authors.forename: Sylke
authors.initials: S
authors.lastname: Singer
authors.forename: Ute
authors.initials: U
authors.lastname: Grasshoff
authors.forename: Karin
authors.initials: K
authors.lastname: Schäferhoff
authors.forename: Michael
authors.initials: M
authors.lastname: Bonin
authors.forename: Olaf
authors.initials: O
authors.lastname: Riess
authors.forename: Martin
authors.initials: M
authors.lastname: Schöning
authors.forename: Andreas
authors.initials: A
authors.lastname: Tzschach
mesh_terms: D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D056726:Genetic Association Studies; D057895:Haploinsufficiency / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D059785:Karyotype; D008297:Male; D010641:Phenotype; D007690:Polycystic Kidney Diseases / Q000175:diagnosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014178:Translocation, Genetic