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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Recurrent disruption of HIP1 identified in patients with epilepsy, learning difficulties, intellectual disability, and neurobehavioral abnormalities

ABSTRACT: We report 12 individuals from ten unrelated families with epilepsy, learning difficulties, intellectual disability, and neurobehavioral abnormalities, who segregated a microdeletion distally adjacent to the Williams-Beuren syndrome region. In six families, a recurrent ~ 1.1 Mb deletion likely resulted from nonallelic homologous recombination between flanking large complex low-copy repeats. Three smaller sized microdeletions (~ 180-500 kb) enabled us to narrow the critical region to one gene, HIP1, encoding Huntington interacting protein 1. genomic DNA from blood was used to analyse 12 samples with control sample using custom made NimbleGen 12x135K microarrays for chr7 region.

ORGANISM(S): Homo sapiens

SUBMITTER: Pawel Stankiewicz

PROVIDER: E-GEOD-23834 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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