These authors have contributed equally to this work.
Mowat–Wilson syndrome: an underdiagnosed syndrome?
Article first published online: 28 APR 2008
© 2008 The Authors Journal compilation © 2008 Blackwell Munksgaard
Volume 73, Issue 6, pages 579–584, June 2008
How to Cite
Engenheiro, E., Møller, R., Pinto, M., Soares, G., Nikanorova, M., Carreira, I., Ullmann, R., Tommerup, N. and Tümer, Z. (2008), Mowat–Wilson syndrome: an underdiagnosed syndrome?. Clinical Genetics, 73: 579–584. doi: 10.1111/j.1399-0004.2008.00997.x
- Issue published online: 7 MAY 2008
- Article first published online: 28 APR 2008
- Received 15 November 2007, revised and accepted for publication 27 February 2008
- chromosome 2q22;
- complex chromosomal rearrangement (CCR);
- Wilson syndrome (MWS);
Mowat–Wilson syndrome (MWS) is an autosomal dominant developmental disorder with mental retardation and variable multiple congenital abnormalities due to mutations of the ZEB2 (ZFHX1B) gene at 2q22. MWS was first described in 1998 and the causative gene was delineated in 2001. Since then, 115 different mutations of ZEB2 have been published in association with this syndrome in 161 individuals. However, recent reports suggest that due to the variability of the congenital abnormalities, this syndrome may still be underdiagnosed. We report two unrelated patients with MWS where the clinical diagnosis was established only after finding of disruption of the ZEB2 gene by a balanced translocation breakpoint and an interstitial microdeletion, respectively.