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Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation

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...

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Main Authors: Frühmesser, Anne (Author) , Blake, Jonathon (Author) , Haberlandt, Edda (Author) , Baying, Bianka (Author) , Raeder, Benjamin (Author) , Runz, Heiko (Author) , Spreiz, Ana (Author) , Fauth, Christine (Author) , Benes, Vladimir (Author) , Utermann, Gerd (Author) , Zschocke, Johannes (Author) , Kotzot, Dieter (Author)
Format: Article (Journal)
Language:English
Published: 20 February 2013
In: European journal of human genetics
Year: 2013, Volume: 21, Issue: 10, Pages: 1177-1180
ISSN:1476-5438
DOI:10.1038/ejhg.2013.18
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/ejhg.2013.18
Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/ejhg201318
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Author Notes: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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Summary: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.
Item Description:Gesehen am 14.06.2021
Physical Description:Online Resource
ISSN:1476-5438
DOI:10.1038/ejhg.2013.18

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