Document Detail

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
MedLine Citation:
PMID:  23422942     Owner:  NLM     Status:  MEDLINE    
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.
Anne Frühmesser; Jonathon Blake; Edda Haberlandt; Bianka Baying; Benjamin Raeder; Heiko Runz; Ana Spreiz; Christine Fauth; Vladimir Benes; Gerd Utermann; Johannes Zschocke; Dieter Kotzot
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2013-02-20
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  21     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Oct 
Date Detail:
Created Date:  2013-09-19     Completed Date:  2014-05-01     Revised Date:  2014-10-12    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  1177-80     Citation Subset:  IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Abnormalities, Multiple / genetics*,  metabolism
Chromosome Breakpoints
Chromosomes, Human, Pair 2 / genetics
Chromosomes, Human, Pair 8 / genetics
Developmental Disabilities / genetics*,  metabolism
Epilepsy / genetics*,  metabolism
GTP-Binding Proteins / genetics*,  metabolism
Lymphocytes / metabolism
Mouth Mucosa / metabolism
Translocation, Genetic*
Young Adult
Reg. No./Substance:
0/EXOC6B protein, human; EC 3.6.1.-/GTP-Binding Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  The intellectual disability of trisomy 21: differences in gene expression in a case series of patien...
Next Document:  Posterior Corneal Shape Changes in Myopic Overnight Orthokeratology.