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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.

ORGANISM(S): Homo sapiens

PROVIDER: GSE23834 | GEO | 2010/08/28

SECONDARY ACCESSION(S): PRJNA130645

REPOSITORIES: GEO

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

Project description: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.

2010-08-28 | E-GEOD-23834 | biostudies-arrayexpress

HIP1 mediates prostate carcinogenesis and progression through STAT3 signalling

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HIP1 mediates prostate carcinogenesis and progression through STAT3 signalling

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Project description:Nuclear entry of transcription factor HIPPI is mediated by its interacting partner Huntingtin Interacting Protein 1 (HIP1), a nuclear localization signal containing nucleo-cytoplasmic shuttling protein. In oredr to investigate the role of HIP1 in HIPPI mediated transcriptional regulation in cell, here we performed microarray experiments using stable HIP1 knocked down HeLa cells (Hip1Si) exogenously expressing Green fluorescent protein tagged HIPPI. Total RNA extracted from HIP1 knocked down HeLa cells (Hip1Si) transfected with empty GFP vector served as control and Total RNA extracted from Hip1Si cells transfected with GFP-Hippi construct served as test. Biological replicates: 4

2011-09-20 | E-GEOD-26116 | biostudies-arrayexpress

Regulation of transcription by HIPPI and its molecular partner HIP1

Project description:This SuperSeries is composed of the following subset Series: GSE26115: Regulation of transcription by HIP1 protein interactor (HIPPI) in HeLa cells GSE26116: Role of HIP1 in HIPPI mediated transcription regulation in HeLa cells Refer to individual Series

2011-09-20 | E-GEOD-26117 | biostudies-arrayexpress

Mass Spectometry of rat synovial fibroblasts immunoprecipitated with anti-HIP1

Project description:Identify HIP1 binding proteins implicated in regulation of invasive property of Rheumatoid Arthritis (RA) fibroblast-like synoviocytes (FLS) by using FLS cell line from arthritic DA (highly invasive) and R6 (minimally invasive) arthritis-protected congenic rats, which differ in amino-acid changing HIP1 SNPs.

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The Psychosocial Impact of Neurobehavioral Disability.

Project description: Not available

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Regulation of transcription by HIPPI and its molecular partner HIP1

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Recurrent 15q13 microdeletions

Project description:We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine patients, including six probands; two with de novo deletions, two who inherited the deletion from an affected parent, and two with unknown inheritance. The proximal breakpoint of the largest deletion is contiguous with breakpoint 3 (BP3) of the Prader-Willi/Angelman region extending 3.95 Mb distally to BP5. A smaller 1.5 Mb deletion has proximal breakpoint within the larger deletion (BP4) and shares the same distal BP5. This recurrent 1.5 Mb deletion contains six genes, including a candidate gene for epilepsy (CHRNA7) that is likely responsible for the observed seizure phenotype. The BP4-BP5 region undergoes frequent inversion, suggesting a possible link between this inversion polymorphism and recurrent deletion. The frequency of these microdeletions in mental retardation cases is ~0.3% (6/2082 tested), a prevalence comparable to that of the Williams, Angelman, and Prader-Willi syndromes. Keywords: microdeletion, genomic disorder, mental retardation, epilepsy Patients were intially screened by BAC array CGH (n=290) or qPCR (n=1040). Patients with potential 15q13 deletions were then analyzed on a custom oligonucleotide array targeted to the 15q13 region, results of which are shown here.

2010-05-26 | E-GEOD-10189 | biostudies-arrayexpress

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