title: Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.
abstract: Interstitial deletions of the short arm of chromosome 3 are rare. We report on a 3-year-old girl with intellectual disability, muscular hypotonia, strabismus, and facial anomalies in whom an interstitial 1.24 Mb deletion in 3p25.3-p26.1 was detected by SNP array analysis. The deleted region harbors 11 RefSeq genes including CAV3 and SRGAP3/MEGAP, which had been associated with muscle disorders and intellectual disability, respectively. The deletion overlaps with a slightly larger deletion in a girl with a more complex phenotype including congenital heart defect and epilepsy, which indicates that haploinsufficiency of one or several of the genes in the deleted interval causes intellectual deficits, but not heart defects or epilepsy. Thus, the patient broadens our knowledge of the phenotypic consequences of deletions in 3p25.3-p26.1 and facilitates genotype-phenotype correlations for chromosome aberrations of this region.
authors.affiliation: Institute of Human Genetics, University of Tuebingen, Germany.
authors.forename: Angelika
authors.initials: A
authors.lastname: Riess
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: Veronka
authors.initials: V
authors.lastname: Horber
authors.forename: Andreas
authors.initials: A
authors.lastname: Tzschach
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D020690:GTPase-Activating Proteins / Q000235:genetics; D056726:Genetic Association Studies; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D020690:GTPase-Activating Proteins; C465659:SRGAP3 protein, human