This website provides information on patients with pathogenic and likely pathogenic variants in the ZEB2 gene, including clinical data, molecular data, management and research options.
A pathogenic or likely pathogenic variant in the ZEB2 gene can cause Mowat-Wilson Syndrome (MWS).
The aim of this website is to collect information on patients with MWS. Frequently identified features in MWS are intellectual disability, speech and motor delay, distinctive facial features, congenital heart defects, Hirschsprung disease, eye and genitourinary abnormalities (particularly hypospadias in males) and complete or partial agenesis of the corpus callosum. Not all individuals with a pathogenic or likely pathogenic variant in the ZEB2 gene will have these features. More patient data is needed to examine the phenotype of patients with a ZEB2 variant in more detail and to identify the consequences of these variants with a higher precision.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with variants in the ZEB2 gene.
We invite clinicians who have identified a variant in ZEB2 in a patient to submit their data to the database.
Livia Garavelli, MD, Medical Genetics Unit, Azienda USL IRCCS, Reggio Emilia, Italy, livia.garavelli@ausl.re.it
Margaret Adam, MD, Division of Genetic Medicine, University of Washington, Washington, USA, margaret.adam@seattlechildrens.org
David Mowat, MD, 1) School of Clinical Medicine, UNSW Medicine & Health, UNSW, Sydney, New South Wales, Australia 2) Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia, Randwick & Sydney, Australia, david.mowat@health.nsw.gov.au
Meredith Wilson, MD, 1) Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, New South Wales, Australia. 2) Discipline of Genomic Medicine, University of Sydney, Sydney, New South Wales, Australia, meredith.wilson@health.nsw.gov.au
Stefano Giuseppe Caraffi, PhD, Medical Genetics Unit, Azienda USL IRCCS, Reggio Emilia, Italy, stefanogiuseppe.caraffi@ausl.re.it
Ivan Ivanovski, MD, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland, ivanovski@medgen.uzh.ch