title: Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2).
abstract: Cytogenetic analysis of DNA from a girl with severe psychomotor retardation revealed a de novo pericentric inversion of chromosome 2: 46,XX,inv(2)(p15q24.2). In order to elucidate the possible role of the inversion in the girl's abnormal phenotype, we analyzed the inversion breakpoints. FISH analysis revealed BAC clones spanning the breakpoints at 2p and 2q of the inversion. Southern blot hybridization with DNA probes from the BAC regions was used to refine the localization of the breakpoints, followed by inverse-PCR which enabled us to sequence the inversion breakpoints. We found a complex chromosomal rearrangement, including five breakpoints, four at 2q and one at 2p joined with minor insertions/deletions of a few bases. The breakpoint at 2p was within the NRXN1 gene that has previously been associated with autism, intellectual disabilities, and psychiatric disorders. In 2q, the breakpoints disrupted two genes, TANC1 and RBMS1; the phenotypic effect of these genes is not currently known.
authors: Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel.
authors: Einat
authors: E
authors: Granot-Hershkovitz
authors: Annick
authors: A
authors: Raas-Rothschild
authors: Ayala
authors: A
authors: Frumkin
authors: David
authors: D
authors: Granot
authors: Shira
authors: S
authors: Silverstein
authors: Dvorah
authors: D
authors: Abeliovich
mesh_terms: D020413:3' Untranslated Regions; D002135:Calcium-Binding Proteins; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics; D002648:Child; D002871:Chromosome Banding; D056905:Chromosome Breakpoints; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D054643:INDEL Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D019006:Neural Cell Adhesion Molecules; D011596:Psychomotor Disorders / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics
chemical_list: D020413:3' Untranslated Regions; D002135:Calcium-Binding Proteins; D015816:Cell Adhesion Molecules, Neuronal; D004268:DNA-Binding Proteins; C539628:NRXN1 protein, human; D009419:Nerve Tissue Proteins; D019006:Neural Cell Adhesion Molecules; C086384:RBMS1 protein, human; D016601:RNA-Binding Proteins