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Auteur Martin POOT |
Documents disponibles écrits par cet auteur (1)
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A Novel 6.14 Mb Duplication of Chromosome 8p21 in a Patient with Autism and Self Mutilation / Heval M. OZGEN in Journal of Autism and Developmental Disorders, 39-2 (February 2009)
[article]
Titre : A Novel 6.14 Mb Duplication of Chromosome 8p21 in a Patient with Autism and Self Mutilation Type de document : Texte imprimé et/ou numérique Auteurs : Heval M. OZGEN, Auteur ; Maretha V. DE JONGE, Auteur ; Wouter G. STAAL, Auteur ; John C. BARBER, Auteur ; Marc J. ELEVELD, Auteur ; Frits A. BEEMER, Auteur ; Ron HOCHSTENBACH, Auteur ; Martin POOT, Auteur Année de publication : 2009 Article en page(s) : p.322-329 Langues : Anglais (eng) Mots-clés : Autism-spectrum-disorder Array-comparative-genomic-hybridization Developmental-delay Fluorescent-in-situ-hybridization Self-mutilation STMN4 DPYSL2 Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with a strong genetic etiology. Cytogenetic abnormalities have been detected in 5–10% of the patients with autism. In this study, we present the clinical, cytogenetic and array-comparative genomic hybridization (array-CGH) evaluation of a 13-year-old male with severe developmental delay, facial dysmorphic features, autism and self mutilation. The patient was found to carry a de novo duplication of chromosome region 8p21 of minimally 6.14 and maximally 6.58 Mb as ascertained by bacterial artificial chromosome (BAC)-based array-CGH. Hitherto, only a few patients with autism with cytogenetically visible duplications involving the chromosome 8p21 region have been described, but the extent of these duplications has not been determined at the molecular level. This represents the smallest rearrangement of chromosomal region 8p21 as yet found in a patient with autism. For 11 of the 36 genes with known functions located within this duplication clear transcription in the brain was found. Of those the STMN4 and DPYSL2 genes are the most likely candidate genes to be involved in neuronal development, and, if altered in gene-dosage, in the autistic phenotype of our patient. En ligne : http://dx.doi.org/10.1007/s10803-008-0627-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=684
in Journal of Autism and Developmental Disorders > 39-2 (February 2009) . - p.322-329[article] A Novel 6.14 Mb Duplication of Chromosome 8p21 in a Patient with Autism and Self Mutilation [Texte imprimé et/ou numérique] / Heval M. OZGEN, Auteur ; Maretha V. DE JONGE, Auteur ; Wouter G. STAAL, Auteur ; John C. BARBER, Auteur ; Marc J. ELEVELD, Auteur ; Frits A. BEEMER, Auteur ; Ron HOCHSTENBACH, Auteur ; Martin POOT, Auteur . - 2009 . - p.322-329.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 39-2 (February 2009) . - p.322-329
Mots-clés : Autism-spectrum-disorder Array-comparative-genomic-hybridization Developmental-delay Fluorescent-in-situ-hybridization Self-mutilation STMN4 DPYSL2 Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with a strong genetic etiology. Cytogenetic abnormalities have been detected in 5–10% of the patients with autism. In this study, we present the clinical, cytogenetic and array-comparative genomic hybridization (array-CGH) evaluation of a 13-year-old male with severe developmental delay, facial dysmorphic features, autism and self mutilation. The patient was found to carry a de novo duplication of chromosome region 8p21 of minimally 6.14 and maximally 6.58 Mb as ascertained by bacterial artificial chromosome (BAC)-based array-CGH. Hitherto, only a few patients with autism with cytogenetically visible duplications involving the chromosome 8p21 region have been described, but the extent of these duplications has not been determined at the molecular level. This represents the smallest rearrangement of chromosomal region 8p21 as yet found in a patient with autism. For 11 of the 36 genes with known functions located within this duplication clear transcription in the brain was found. Of those the STMN4 and DPYSL2 genes are the most likely candidate genes to be involved in neuronal development, and, if altered in gene-dosage, in the autistic phenotype of our patient. En ligne : http://dx.doi.org/10.1007/s10803-008-0627-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=684