Mowat-Wilson syndrome

What causes Mowat-Wilson syndrome?

Mowat-Wilson syndrome is caused by a mutation in the ZEB2 (also known as ZFHX1B or SIP-1 ) gene. This gene provides instructions for making a protein needed for proper formation of many organs and tissues before birth. The protein attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the ZEB2 protein is involved in the development of tissues that give rise to the nervous system, digestive tract, facial features, heart, and other organs.

Mowat-Wilson syndrome almost always results from the loss of one working copy of the ZEB2 gene in each cell. In some cases, the entire gene is deleted. In other cases, mutations within the gene lead to the production of an abnormally short, nonfunctional version of the ZEB2 protein. A shortage of this protein disrupts the normal development of many organs and tissues, which causes the features of Mowat-Wilson syndrome.

Last updated on 05-01-20

Is Mowat-Wilson syndrome inherited?

Mowat-Wilson syndrome (MWS) is technically considered an autosomal dominant disorder, which means that one mutated copy of the gene in each cell is sufficient to cause the disorder. However, it typically is not inherited from a parent, resulting from a new (de novo) mutation in the gene. The new mutation occurs during the formation of reproductive cells (eggs or sperm) or in early embryonic development.

In very rare cases, more than one child in a family has MWS. The chance of recurrence for parents who have a child with MWS is approximately 2% or less. A person could have more than one child with MWS if one parent has a proportion of egg or sperm cells with a mutation that causes MWS. This is called germline mosaicism.

Last updated on 05-01-20

What is the long-term outlook for people with Mowat-Wilson syndrome?

There is little information available about the long-term outlook for people with Mowat-Wilson syndrome. Quality of life and life expectancy depend on the presence and severity of birth defects. Therefore, the outlook for each person is different. There have been reports of death in early childhood, as well as reports of people living into adulthood (although requiring assistance with the activities of daily living). The number of adults known to have a diagnosis of Mowat-Wilson syndrome is increasing as better knowledge of the range of severity emerges (i.e. some people may be more mildly affected), and there is increased detection of the syndrome with genetic testing.

Last updated on 05-01-20

Patient Registry

Mowat-Wilson Syndrome Foundation

The Mowat-Wilson Syndrome Foundation's Patient Registry is for patients to share valuable information that will help researchers better understand and treat Mowat-Wilson syndrome.

Last updated on 04-27-20

Name: Pull-thru Network 2312 Savoy Street
Hoover, AL, 35226 , United States
Phone: 205–978–2930 Email: PTNmail@charter.net Url: http://www.pullthrunetwork.org/
Name: Mowat-Wilson Syndrome Foundation 4009 Tyler William Ln.
Las Vegas, NV, 89130-2628,
Phone: (702) 658-5391 Url: https://mowat-wilson.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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