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Human Molecular Genetics Advance Access originally published online on November 13, 2008
Human Molecular Genetics 2009 18(3):517-524; doi:10.1093/hmg/ddn379
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© The Author 2008. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1

Renate Zeevaert1, François Foulquier2,3, Boyan Dimitrov2, Ellen Reynders4,5, Rita Van Damme-Lombaerts1, Emil Simeonov6, Wim Annaert4,5, Gert Matthijs2 and Jaak Jaeken1,*

1 Department of Pediatrics, University Hospitals Leuven, Herestraat 49, BE-3000 Leuven, Belgium 2 Center for Human Genetics, University of Leuven, Leuven, Belgium, 3 Unité de Glycobiologie Structurale et Fonctionnelle UMR/CNRS 8576, IFR147, Université des Sciences et Technologies, Lille, France, 4 Laboratory for Membrane Trafficking, Center for Human Genetics, University of Leuven, Leuven, Belgium, 5 Department for Molecular and Developmental Genetics, Flanders Institute for Biotechnology (VIB), Leuven, Belgium 6 Clinical Genetics Unit, Department of Pediatrics, Medical Faculty, Sofia, Bulgaria

* To whom correspondence should be addressed. Tel: +32 16343820; Fax: +32 16343842; Email: Jaak.Jaeken{at}uz.kuleuven.be

We describe two patients with a cerebrocostomandibular-like syndrome and a novel mutation in conserved oligomeric Golgi (COG) subunit 1, one of the subunits of the conserved oligomeric Golgi complex. This hetero-octameric protein complex is involved in retrograde vesicular trafficking and glycosylation. We identified in both patients an intronic mutation, c.1070+5G>A, that disrupts a splice donor site and leads to skipping of exon 6, a frameshift and a premature stopcodon in exon 7. Real-time reverse transcriptase polymerase chain reaction showed in the first patient only 3% of normal transcript when compared with control. A delay in retrograde trafficking could be demonstrated by Brefeldin A treatment of this patient's fibroblasts. The costovertebral dysplasia of the two patients has been described in cerebrocostomandibular syndrome (CCMS), but also in cerebrofaciothoracic dysplasia and spondylocostal dysostosis. CCMS itself is heterogeneous because both autosomal dominant and autosomal recessive inheritance has been described. We anticipate further genetic heterogeneity because no mutations in COG1 were found in two additional patients with a CCMS.


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P. Paesold-Burda, C. Maag, H. Troxler, F. Foulquier, P. Kleinert, S. Schnabel, M. Baumgartner, and T. Hennet
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