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| Verfasst von: | Frühmesser, Anne [VerfasserIn]  |
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| | Blake, Jonathon [VerfasserIn] |
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| | Haberlandt, Edda [VerfasserIn] |
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| | Baying, Bianka [VerfasserIn] |
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| | Raeder, Benjamin [VerfasserIn] |
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| | Runz, Heiko [VerfasserIn] |
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| | Spreiz, Ana [VerfasserIn] |
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| | Fauth, Christine [VerfasserIn] |
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| | Benes, Vladimir [VerfasserIn] |
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| | Utermann, Gerd [VerfasserIn] |
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| | Zschocke, Johannes [VerfasserIn] |
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| | Kotzot, Dieter [VerfasserIn] |
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| Titel: | Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation |
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| Verf.angabe: | Anne Frühmesser, Jonathon Blake, Edda Haberlandt, Bianka Baying, Benjamin Raeder, Heiko Runz, Ana Spreiz, Christine Fauth, Vladimir Benes, Gerd Utermann, Johannes Zschocke and Dieter Kotzot |
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| E-Jahr: | 2013 |
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| Jahr: | 20 February 2013 |
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| Umfang: | 4 S. |
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| Teil: | volume:21 |
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| | year:2013 |
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| | number:10 |
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| | pages:1177-1180 |
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| | extent:4 |
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| Fussnoten: | Gesehen am 14.06.2021 |
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| Titel Quelle: | Enthalten in: European journal of human genetics |
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| Ort Quelle: | Basingstoke : Stockton Press, 1998 |
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| Jahr Quelle: | 2013 |
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| Band/Heft Quelle: | 21(2013), 10, Seite 1177-1180 |
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| ISSN Quelle: | 1476-5438 |
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| Abstract: | Most balanced chromosomal aberrations are not associated with a clinical phenotype, however, in some patients they may disrupt gene structure. With the development of various next-generation sequencing techniques, fast and specific analyses of the breakpoint regions of chromosomal rearrangements are possible. Here, we report on a 19-year-old woman with a de novo balanced translocation t(2;8)(p13.2;q22.1) and a severe clinical phenotype including intellectual disability, epilepsy, behavioral features resembling autism, and minor dysmorphic features. By next-generation sequencing, we defined the breakpoints and found disruption of the exocyst complex component 6B (EXOC6B) gene in intron 1 on chromosome 2p13.2 involving two Alu elements with a homology of 81%. No gene was found at the respective breakpoint on chromosome 8. Expression analysis of the EXOC6B in blood lymphocytes and buccal smear revealed reduced expression in the patient in comparison with the control. Our findings in combination with one recently published case and one other patient listed in DECIPHER v5.1 indicate EXOC6B as a gene relevant for intellectual development and electrophysiological stability. |
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| DOI: | doi:10.1038/ejhg.2013.18 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext ; Verlag: https://doi.org/10.1038/ejhg.2013.18 |
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| | Volltext: https://www.nature.com/articles/ejhg201318 |
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| | DOI: https://doi.org/10.1038/ejhg.2013.18 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| K10plus-PPN: | 1760378607 |
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| Verknüpfungen: | → Zeitschrift |
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Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation / Frühmesser, Anne [VerfasserIn]; 20 February 2013 (Online-Ressource)
