Skip Navigation



Human Molecular Genetics Advance Access published online on January 11, 2006
Human Molecular Genetics, doi:10.1093/hmg/ddi474
This Article
Right arrow FREE Full Text (PDF) Freely available
Right arrow Supplementary Material
Right arrow All Versions of this Article:
15/4/581    most recent
ddi474v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Fischer, S.
Right arrow Articles by Horsthemke, B.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Fischer, S.
Right arrow Articles by Horsthemke, B.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author 2006. Published by Oxford University Press. All rights reserved
Received October 7, 2005
Revised December 7, 2005
Accepted January 4, 2006

Article

Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum (OAVS)

Sven Fischer 1, Hermann-Josef Lüdecke 1, Dagmar Wieczorek 1, Stefan Böhringer 1, Gabriele Gillessen-Kaesbach 1, and Bernhard Horsthemke 2 *

1 Institut für Humangenetik, Universitätsklinikum, 45122 Essen, Germany
2 Institut für Humangenetik, Universitätsklinikum Essen, 45122 Essen, Germany

* To whom correspondence should be addressed.
Bernhard Horsthemke, E-mail: b.horsthemke{at}uni-essen.de


  Abstract

The oculo-auriculo-vertebral spectrum (OAVS, OMIM %164210) is a common developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malformation and vertebral anomalies. Although rare familial cases suggest that OAVS has a genetic basis, no genetic defect has been identified so far. In a patient with OAVS and a chromosomal translocation t(4;8) we have found that the chromosome 4 breakpoint is 76.4 kb distal to the BAPX1 gene, which plays an essential role in craniofacial development. We did not detect any BAPX1 mutation in 105 patients, but observed a strong allelic expression imbalance (sAEI) in fibroblasts from five of twelve patients, but not in nine normal controls (Fisher's exact test, P = 0.038). sAEI was de novo in one patient and inherited in two other patients. Prolonged cell culture or treatment with the histone deacetylase inhibitor Trichostatin A led to reactivation of the downregulated allele. We propose that epigenetic dysregulation of BAPX1 plays an important role in OAVS.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J. Med. Genet.Home page
F Alasti and G Van Camp
Genetics of microtia and associated syndromes
J. Med. Genet., June 1, 2009; 46(6): 361 - 369.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.