Families

Clinical Features
Changes in the ZEB2 gene can cause Mowat-Wilson Syndrome (MWS), a rare genetic disorder characterised by distinctive facial features, moderate to severe intellectual disability and other variable features including microcephaly, short stature, and constipation. Epilepsy and congenital heart defects are also very common and should be considered in the assessment and follow-up of individuals with MWS.

Prevalence
The prevalence of MWS has been estimated at about 1:50,000 to 1:70,000 live births.

Inheritance
Changes (variants) in ZEB2 function in an autosomal dominant manner, meaning that a change in one copy of the gene is sufficient to cause Mowat-Wilson syndrome, and in theory, an affected person could pass on the condition. However, almost all affected individuals reported to date have resulted from a de novo (new) genetic alteration. This means that these changes happened during the germinal stage. i.e. the production of an egg or sperm in a parent, before fertilisation of the egg cell by the sperm. These changes do not usually happen again in another egg or sperm, so they are unlikely to be passed on to other children of the same unaffected couple. Therefore in MWS the chance of having another affected child is low (less than 2%), although it is higher than for other couples in the general population. (Note: Because of the impact of the condition, individuals with MWS do not have children; but if one could, his/her chance of having an affected child would be 50%).