Skip Navigation

This Article
Right arrow Full Text (PDF)
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 arrow Search for citing articles in:
ISI Web of Science (52)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Vincent, C.
Right arrow Articles by Petit, C.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Vincent, C.
Right arrow Articles by Petit, C.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1994 Oxford University Press

OTHER

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene

Christophe Vincent, Vasiliki Kalatzis, Sylvie Compain, Jacqueline Levilliers, Rima Slim, Fatima Graia, Maria de Lurdes Pereira, Annie Nivelon1, Marie-France Croquette2, Didier Lacombe3, Jacqueline Vigneron4, Jocelyne Helias5, Michel Broyer6, David F. Callen7, Eric A. Haan8, Jean Weissenbach9, Bruno Lacroix10, Christine Bellané-Chantelot10, Denis Le Paslier10, Daniel Cohen10 and Christine Petit*,

Unité de Génétique Moléculaire Humaine (CNRS URA 1445), Institut Pasteur 25 rue du Dr Roux, 75724 Paris Cédex 15 1Centre de Génétique, Hopital d'Enfants 10 Boulevard Maréchal-de-Lattre-de-Tassigny, 21034 Dijon Cédex 2Laboratoire de Cytogénétique, Hopital Saint Antoine 329 Boulevard Victor Hugo, 59019 Lille Cédex 3Service de Pédiatrie et Génétique Médicale, Groupe Hospitalier Pellegrin-Enfants Place Amélie Raba-Léon, 33076 Bordeaux Cédex 4Service de Néonatalogie-Génétique, Maternité Régionale de Nancy 10 rue du Dr Heydenreich, 54042 Nancy Cédex 5Service d'Oto-Rhino-Laryngologie, Hopital Jean Minjoz 25030 Besançon Cédex 6Département de Pédiatrie Médicale, Hopital Necker 149 rue de Sérvres, 75743 Paris Cédex 15, France 7Department of Cytogenetics and Molecular Genetics, Adelaice Children's Hospital 72 King William Road, North Adelaide, SA 5006, Australia 8Department of Medical Genetics, Adelaice Children's Hospital 72 King William Road, North Adelaide, SA 5006, Australia 9Généthon, 1 rue de I'Internationale 91000 Evry 10Centre d'Etude du Polymorphisme Humain 27 rue Juliette Dodu, 75010 Paris, France

*To whom correspondence should be addressed

Received June 22, 1994; Revised August 11, 1994; Accepted August 11, 1994

The analysis of a de novo 8q12.2–q21.2 deletion led to the identification of a proposed previously undescribed contiguous gene syndrome consisting of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, hydrocephalus and trapeze aplasia. This is the first reported localization of the genes responsible for Duane syndrome and this dominant form of hydrocephalus. In contrast, we report a new localization for the gene responsible for BOR syndrome which is more telomeric to an initial placement. Linkage analysis of affected families consistently mapped the gene responsible for BOR and Branchio-Oto (BO) syndromes to within the deletion. Using new algorithms, a YAC contig was constructed and used to localize the breakpoint of another chromosomal rearrangement associated with BO syndrome to a 500 kb interval within the deletion. The 8q12.2–q21.2 deletion suggests that reduced dosage of the relevant genes is sufficient to cause Duane syndrome, BOR syndrome and this dominant form of hydrocephalus.


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. Biol. Chem.Home page
P. J. Lyons, M. B. Callaway, and L. D. Fricker
Characterization of Carboxypeptidase A6, an Extracellular Matrix Peptidase
J. Biol. Chem., March 14, 2008; 283(11): 7054 - 7063.
[Abstract] [Full Text] [PDF]

Home page
 Arch OphthalmolHome page
E. C. Engle
Genetic Basis of Congenital Strabismus
Arch Ophthalmol, February 1, 2007; 125(2): 189 - 195.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
T Tukel, A Uzumcu, A Gezer, H Kayserili, M Yuksel-Apak, O Uyguner, S H Gultekin, H-C Hennies, P Nurnberg, R J Desnick, et al.
A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter
J. Med. Genet., May 1, 2005; 42(5): 408 - 415.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
M Michaelides and A T Moore
The genetics of strabismus
J. Med. Genet., September 1, 2004; 41(9): 641 - 646.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
A. Pizzuti, G. Calabrese, M. Bozzali, L. Telvi, E. Morizio, V. Guida, V. Gatta, L. Stuppia, A. Ion, G. Palka, et al.
A Peptidase Gene in Chromosome 8q Is Disrupted by A Balanced Translocation in a Duane Syndrome Patient
Invest. Ophthalmol. Vis. Sci., December 1, 2002; 43(12): 3609 - 3612.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
J. Kohlhase, M. Heinrich, L. Schubert, M. Liebers, A. Kispert, F. Laccone, P. Turnpenny, R. M. Winter, and W. Reardon
Okihiro syndrome is caused by SALL4 mutations
Hum. Mol. Genet., November 1, 2002; 11(23): 2979 - 2987.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
E. C. Engle and R. J. Leigh
Genes, brainstem development, and eye movements
Neurology, August 13, 2002; 59(3): 304 - 305.
[Full Text] [PDF]

Home page
 J. Med. Genet.Home page
K Becker, P. Beales, D M Calver, G Matthijs, and S N Mohammed
Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families
J. Med. Genet., January 1, 2002; 39(1): 68 - 71.
[Full Text] [PDF]

Home page
 J. Med. Genet.Home page
S. RICKARD, M. BOXER, R. TROMPETER, and M. BITNER-GLINDZICZ
Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes
J. Med. Genet., August 1, 2000; 37(8): 623 - 627.
[Full Text]


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.