How to cite this article: Garavelli L, Zollino M, Cerruti Mainardi P, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G. 2009. Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature. Am J Med Genet Part A 149A:417–426.
Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature†
Version of Record online: 12 FEB 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 3, pages 417–426, March 2009
How to Cite
Garavelli, L., Zollino, M., Mainardi, P. C., Gurrieri, F., Rivieri, F., Soli, F., Verri, R., Albertini, E., Favaron, E., Zignani, M., Orteschi, D., Bianchi, P., Faravelli, F., Forzano, F., Seri, M., Wischmeijer, A., Turchetti, D., Pompilii, E., Gnoli, M., Cocchi, G., Mazzanti, L., Bergamaschi, R., De Brasi, D., Sperandeo, M.P., Mari, F., Uliana, V., Mostardini, R., Cecconi, M., Grasso, M., Sassi, S., Sebastio, G., Renieri, A., Silengo, M., Bernasconi, S., Wakamatsu, N. and Neri, G. (2009), Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature. Am. J. Med. Genet., 149A: 417–426. doi: 10.1002/ajmg.a.32693
- Issue online: 24 FEB 2009
- Version of Record online: 12 FEB 2009
- Manuscript Accepted: 20 NOV 2008
- Manuscript Received: 22 JUN 2008
- Mowat-Wilson syndrome;
- Hirschsprung disease;
- facial phenotype;
Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical face, moderate-to-severe mental retardation, epilepsy, Hirschsprung disease, and multiple congenital anomalies, including genital anomalies (particularly hypospadias in males), congenital heart defects, agenesis of the corpus callosum, and eye defects. Since the first delineation by Mowat et al. [Mowat et al. (1998); J Med Genet 35:617–623], ∼179 patients with ZEB2 mutations, deletions or cytogenetic abnormalities have been reported primarily from Europe, Australia and the United States. Genetic defects include chromosome 2q21–q23 microdeletions (or different chromosome rearrangements) in few patients, and ZEB2 mutations in most. We report on clinical and genetic data from 19 Italian patients, diagnosed within the last 5 years, including six previously published, and compare them with patients already reported. The main purpose of this review is to underline a highly consistent phenotype and to highlight the phenotypic evolution occurring with age, particularly of the facial characteristics. The prevalence of MWS is likely to be underestimated. Knowledge of the phenotypic spectrum of MWS and of its changing phenotype with age can improve the detection rate of this condition. © 2009 Wiley-Liss, Inc.