Mowat-Wilson Syndrome is a rare genetic condition that was first described in 1998 by Mowat, David, and Wilson. It is characterized by multiple congenital anomalies including distinctive facial features, intellectual disability, and other developmental abnormalities. The syndrome is caused by mutations in the ZEB2 gene, also known as ZFHX1B gene.

Some of the key features of Mowat-Wilson Syndrome include heart defects, Hirschsprung disease (a condition that affects the large intestine and causes constipation), and abnormalities of the nasal tissues. Patients with this syndrome may also have other additional features such as seizures, eye abnormalities, and hearing loss.

Genetic testing is available for the diagnosis of Mowat-Wilson Syndrome. The frequency of mutations in the ZEB2 gene is estimated to be around 87%. This testing can be done through various resources including medical genetic centers and laboratories that specialize in genetic testing. More information about this syndrome, including articles, scientific references, and patient support resources, can be found for free on websites such as OMIM, PubMed, and advocacy organizations.

Frequency

The Mowat-Wilson syndrome is a rare genetic condition caused by mutations in the ZEB2 (ZFHX1B) gene. It was first described in 1998 by Mowat et al. and Wilson et al. The exact frequency of the syndrome is unknown, but it is estimated to occur in approximately 1 in 50,000 to 1 in 100,000 live births.

Additional articles and scientific resources are available for people who want to learn more about this rare syndrome. The Mowat-Wilson Syndrome Foundation, the Mowat-Wilson Syndrome Research Center, and other advocacy and support groups provide free information, resources, and support for individuals and families affected by the syndrome.

The Mowat-Wilson syndrome is associated with a variety of clinical features. Some of the most common symptoms include intellectual disability, distinctive facial features, delayed development, seizures, congenital heart defects, and gastrointestinal problems such as constipation. However, the phenotype can vary among individuals with the syndrome, and not all features may be present in every patient.

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Genetic testing is available to confirm the diagnosis of Mowat-Wilson syndrome. Testing can detect mutations in the ZEB2 gene, which are the underlying cause of the syndrome. In some cases, genetic testing may also be able to identify other genes for rare diseases with similar features to Mowat-Wilson syndrome.

References:

1. Mowat, D.R., Wilson, M.J., & Goossens, M., 1998. Mowat-Wilson syndrome. Journal of medical genetics, 35(10), pp. 901-905. PubMed.
2. Hudgins, L. et al., 2004. Mowat-Wilson syndrome: gene expression and clinical manifestations in 12 patients. American journal of medical genetics. Part A, 129A(3), pp. 310-317. PubMed.
3. Mari, F. et al., 2015. Mowat-Wilson Syndrome: Facial Phenotype Changing with Age: Study of 19 Italian Patients and Review of the Literature. American journal of medical genetics. Part A, 167A(3), pp. 417-426. PubMed.

For more information and resources on Mowat-Wilson syndrome, you can visit the following websites:

• Mowat-Wilson Syndrome Foundation
• Mowat-Wilson Syndrome Research Center
• OMIM (Online Mendelian Inheritance in Man) – Entry on Mowat-Wilson syndrome
• GeneCards – Information on ZEB2 gene and associated conditions

Causes

Mowat-Wilson syndrome (MWS) is a rare genetic condition that is caused by mutations in the ZEB2 gene. The ZEB2 gene is also known by other names, including SIP1 and ZFHX1B.

These mutations in the ZEB2 gene are associated with a wide range of clinical features and medical problems. The ZEB2 gene provides instructions for making a protein that is involved in the development and function of many different tissues and organs in the body.

Mutations in the ZEB2 gene can lead to a variety of symptoms, including intellectual disability, distinctive facial features, and developmental delays. Other features commonly seen in people with Mowat-Wilson syndrome include heart defects, Hirschsprung disease (a condition that affects the large intestine and causes severe constipation), and problems with the kidneys and urinary tract.

The inheritance pattern of Mowat-Wilson syndrome is autosomal dominant, which means that a person only needs to inherit one altered copy of the ZEB2 gene to develop the condition. Most cases of Mowat-Wilson syndrome are not inherited from a parent, but occur as new mutations in the ZEB2 gene.

Testing for mutations in the ZEB2 gene is available and can confirm a diagnosis of Mowat-Wilson syndrome in individuals with the characteristic clinical features. It is important to note that not everyone with Mowat-Wilson syndrome will have a mutation in the ZEB2 gene, as additional genes have also been associated with a similar phenotype.

For more information about the genetic causes of Mowat-Wilson syndrome, resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can provide access to scientific articles and references.

• OMIM: https://omim.org/entry/235730
• PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=Mowat-Wilson+syndrome

Support and advocacy organizations, such as the Mowat-Wilson Syndrome Foundation and the Mowat-Wilson Syndrome Center at Baylor College of Medicine, can also provide additional information and resources for patients and families affected by Mowat-Wilson syndrome.

Learn more about the gene associated with Mowat-Wilson syndrome

Mowat-Wilson syndrome is a rare genetic condition that causes a variety of features and disabilities. It is caused by mutations in the ZEB2 gene, also known as ZFHX1B. This gene provides instructions for making a protein that is essential for the development and function of various tissues and organs in the body.

People with Mowat-Wilson syndrome typically have distinctive facial features, including a broad nasal bridge, wide-spaced eyes, and a highly arched eyebrow. They may also have moderate to severe intellectual disability, developmental delay, and heart defects.

Genetic testing is available to confirm a diagnosis of Mowat-Wilson syndrome. The Mowat-Wilson Syndrome Patient and Family Support Group provides a testing catalog and resources for patients and families who suspect they may be affected by this condition.

Additional information about the ZEB2 gene and its associated features can be found on the OMIM website, a free online catalog of human genes and genetic disorders. This resource offers scientific articles, clinical descriptions, and references to other related genes and diseases.

The Mowat-Wilson Syndrome Research Center and the Mowat-Wilson Syndrome Foundation also provide support, advocacy, and information about the condition for patients and families. They offer resources on genetic testing, inheritance patterns, and available treatments for the various features and associated conditions of Mowat-Wilson syndrome.

Without testing, it can be challenging to determine if an individual has Mowat-Wilson syndrome solely based on their clinical features. However, the distinctive facial features, developmental delay, and heart defects seen in many patients can provide clues for diagnosis. Consultation with a medical geneticist or other healthcare professional with expertise in genetics is often necessary.

In conclusion, the ZEB2 gene is the gene associated with Mowat-Wilson syndrome. Mutations in this gene cause the phenotype and features observed in affected individuals. Genetic testing, along with information from scientific articles and advocacy organizations, can provide valuable insights for patients, families, and healthcare professionals dealing with this rare condition.

Inheritance

Inheritance of Mowat-Wilson syndrome follows an autosomal dominant pattern, which means that a person affected by the syndrome has a 50% chance of passing it on to each of their children. However, de novo mutations in the ZFHX1B gene, which is associated with Mowat-Wilson syndrome, are responsible for the majority of cases. In these cases, the gene mutation occurs for the first time in the affected person and is not inherited from either parent.

The ZFHX1B gene, also known as SIP1, is involved in embryonic development and plays a role in the formation of multiple tissues and organs, including the heart, brain, and intestines. Mutations in this gene result in the characteristic features and clinical phenotype of Mowat-Wilson syndrome.

Genetic testing is available to confirm a diagnosis of Mowat-Wilson syndrome. This testing can detect mutations in the ZFHX1B gene and is typically done through DNA sequencing. In addition to genetic testing, clinical evaluation and assessment of the patient’s features and symptoms are also important for diagnosis.

Patient advocacy organizations and support groups, such as the Mowat-Wilson Syndrome Foundation, offer resources and support for individuals and families affected by the syndrome. These organizations provide information, educational materials, and connections to medical professionals with expertise in the condition. Additional resources, including scientific articles and clinical studies, can be found through databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

It is important for individuals with Mowat-Wilson syndrome and their families to consult with healthcare professionals and genetic counselors for accurate diagnosis, management, and support. Treatment may involve addressing specific symptoms and complications associated with the syndrome, such as constipation and heart defects. Regular follow-up and monitoring are recommended to address the individual needs of each patient.

As Mowat-Wilson syndrome is a rare genetic condition, raising awareness and understanding among healthcare providers and the general public is crucial for early diagnosis and appropriate management of affected individuals.

Other Names for This Condition

Mowat-Wilson syndrome is also known by the following names:

• Hirschsprung disease-mental retardation syndrome
• Mental retardation, microcephaly, and distinct facial features, with or without Hirschsprung disease
• ZEB2 syndrome
• Zinc finger homeobox 1B gene syndrome
• Hirschsprung disease-mental retardation syndrome type 2
• Intellectual disability with dysmorphic facies, ptosis, and developmental delay

These names reflect the various features associated with the condition. “Mowat-Wilson syndrome” is the most commonly used name for this condition.

For a more complete list of alternative names for this condition, you can visit the Online Mendelian Inheritance in Man (OMIM) database and search for “Mowat-Wilson syndrome”.

The Mowat-Wilson syndrome has been associated with mutations in the ZEB2 gene. Information about this gene, including testing availability and additional resources, can be found on the Mowat-Wilson Syndrome Foundation’s website.

Additional Information Resources

Here is some additional information and resources about Mowat-Wilson syndrome:

• Websites and Online Resources:
• OMIM – Mowat-Wilson Syndrome: OMIM provides comprehensive and up-to-date information about genetic diseases, including Mowat-Wilson syndrome.
• PubMed: PubMed is a scientific database where you can find research articles, case studies, and more information about Mowat-Wilson syndrome.
• Genetics Home Reference – Mowat-Wilson Syndrome: Genetics Home Reference provides consumer-friendly information on genetic conditions. Their page on Mowat-Wilson syndrome includes an overview of the condition, its causes, inheritance, and associated features.
• Support Organizations and Advocacy Groups:
• Mowat-Wilson Syndrome Foundation: The Mowat-Wilson Syndrome Foundation offers support, resources, and advocacy for individuals and families affected by this rare genetic condition.
• Tissues and Genes:
• ZEB2: This gene is associated with Mowat-Wilson syndrome and plays a role in the development of various tissues and organs.
• ZFHX1B: Mutations in this gene have also been linked to Mowat-Wilson syndrome. It is involved in the regulation of gene expression and development.
• Clinical Information:
• GeneReviews – Mowat-Wilson Syndrome: GeneReviews provides a comprehensive clinical description of Mowat-Wilson syndrome, including information about diagnosis, management, and genetic testing.

These resources offer more information about Mowat-Wilson syndrome, its causes, phenotype, associated features, and genetic mutations. They provide support for affected individuals and families, as well as free testing and advocacy.

Genetic Testing Information

Genetic testing for Mowat-Wilson syndrome involves the analysis of the ZFHX1B gene. This gene is responsible for causing the syndrome, and mutations in this gene are associated with the condition. The frequency of these mutations is relatively rare.

Genetic testing is available for people who have clinical features consistent with Mowat-Wilson syndrome. This testing can confirm the diagnosis and help provide additional information about the condition. It can also help in identifying any associated diseases or other genetic mutations.

The Mowat-Wilson Syndrome Research and Support Center is an advocacy organization that provides resources and support for patients and families affected by the syndrome. They offer free genetic testing for people suspected of having Mowat-Wilson syndrome.

The OMIM database and PubMed are excellent resources for obtaining information about the genetic causes, clinical features, and inheritance of Mowat-Wilson syndrome. These databases contain articles and references to scientific publications on the topic.

Genetic testing can be performed on various tissues, including blood or saliva samples. It is a non-invasive procedure and is usually performed by specialized genetic testing laboratories.

Common features of Mowat-Wilson syndrome include distinctive facial features, intellectual disability, severe developmental delays, heart defects, and constipation. However, the phenotype can vary greatly between individuals.

Resources	Genes	Phenotype
Mowat-Wilson Syndrome Research and Support Center	ZFHX1B	Distinctive facial features, intellectual disability, heart defects, constipation
OMIM	ZFHX1B	Intellectual disability, heart defects, constipation
PubMed	ZFHX1B	Intellectual disability, heart defects, constipation

Genetic testing can help in confirming the diagnosis and providing information about the management of Mowat-Wilson syndrome. It can also assist in determining the risk of recurrence in future pregnancies.

It is important for individuals and families affected by Mowat-Wilson syndrome to seek genetic counseling and support. Genetic counselors can provide information about the inheritance patterns, available testing options, and available resources.

Overall, genetic testing plays a crucial role in the diagnosis and management of Mowat-Wilson syndrome. It provides valuable information about the genetic causes, associated diseases, and potential treatment options for affected individuals.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a free, online resource providing information about genetic and rare diseases. GARD offers a wide range of resources for both healthcare professionals and the general public, including scientific articles, patient advocacy and support groups, and information about genetic testing and inheritance patterns.

GARD provides information on a variety of rare diseases, including Mowat-Wilson syndrome. Mowat-Wilson syndrome is a rare genetic condition caused by mutations in the ZEB2 gene. It is characterized by intellectual disability, distinctive facial features, and a variety of other physical abnormalities.

Through GARD, individuals can learn more about the signs and symptoms, frequency, and causes of Mowat-Wilson syndrome, as well as available testing and treatment options. GARD also provides references to additional resources, such as the Online Mendelian Inheritance in Man (OMIM) database, which contains information on genes and genetic diseases.

One of the significant features of Mowat-Wilson syndrome is heart defects, which are often present in affected individuals. GARD provides information on the different types of heart defects associated with the condition and the importance of regular cardiac evaluations for patients.

In addition to the scientific information available, GARD also offers resources for patients and families, including information on advocacy and support groups. These groups can provide invaluable support to individuals affected by Mowat-Wilson syndrome, connecting them with others who have the same condition and offering emotional support and practical advice.

GARD’s website features a genetic testing registry that helps individuals find laboratories offering testing for specific genes or conditions. This resource can be helpful in finding laboratories that perform genetic testing for Mowat-Wilson syndrome.

Overall, the Genetic and Rare Diseases Information Center provides comprehensive and reliable information on Mowat-Wilson syndrome and many other genetic and rare diseases. It is a valuable resource for individuals seeking information on this rare condition, as well as healthcare professionals treating patients with Mowat-Wilson syndrome.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Mowat-Wilson syndrome, there are several patient support and advocacy resources available to provide information, support, and guidance. These resources can help individuals and families navigate the challenges associated with this rare genetic condition.

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides detailed information about genes, genetic conditions, and associated phenotypes. The OMIM entry for Mowat-Wilson syndrome includes information on the clinical features, inheritance pattern, and available genetic testing.
• Mowat-Wilson Syndrome Foundation: This foundation is dedicated to supporting individuals with Mowat-Wilson syndrome and their families. They provide resources and information on the syndrome, as well as opportunities for networking and connecting with other families.
• Mari’s Mowat-Wilson Syndrome Page: Mari’s website offers a wealth of information on Mowat-Wilson syndrome, including personal stories, medical information, and links to additional resources and support groups.
• The Genetic and Rare Diseases Information Center (GARD): GARD provides free access to reliable information on rare and genetic diseases. Their website includes an overview of Mowat-Wilson syndrome, including information on symptoms, causes, and treatment options.
• ZFHX1B gene testing and research: The ZFHX1B gene is known to be associated with Mowat-Wilson syndrome. Genetic testing for mutations in this gene can help confirm a diagnosis. Several laboratories offer genetic testing for Mowat-Wilson syndrome, and a genetic counselor can provide more information on the testing process.
• Scientific articles and research publications: PubMed is a valuable resource for accessing scientific articles and research publications on Mowat-Wilson syndrome. These publications can provide in-depth information on the genetics, clinical characteristics, and management of the condition.
• Rare Diseases Patient and Family Support Organizations: There are several rare disease advocacy organizations that may provide support and resources for individuals with Mowat-Wilson syndrome. These organizations may offer educational materials, support groups, and conferences for individuals and families affected by rare diseases.

By utilizing these patient support and advocacy resources, individuals with Mowat-Wilson syndrome can access information, connect with others facing similar challenges, and receive the support they need to navigate the complexities of this condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides valuable information about rare and common diseases, including Mowat-Wilson syndrome. This syndrome, caused by mutations in the ZEB2 (Zfhx1b) gene, is associated with various features such as intellectual disability, distinctive facial appearance, heart defects, constipation, and more.

The catalog includes a wide range of resources, such as scientific articles, clinical descriptions, inheritance patterns, and genetic testing information. This valuable database supports medical professionals, researchers, and patients alike in understanding and managing genetic conditions.

By accessing OMIM, individuals can learn more about Mowat-Wilson syndrome and other rare diseases. The catalog provides detailed information about the genes and mutations that cause these conditions, as well as their clinical features. It also offers references to scientific articles on PubMed, a free resource for accessing biomedical literature.

In addition to genetic information, OMIM also includes advocacy and support resources for people affected by rare diseases. The catalog serves as a center for connecting patients and families, providing a platform for sharing experiences and finding support.

Genetic testing is an important tool for diagnosing and managing genetic conditions. OMIM provides information about available tests for Mowat-Wilson syndrome and other diseases. Genetic testing can help confirm a diagnosis, guide treatment decisions, and provide valuable information for genetic counseling.

OMIM’s catalog of genes and diseases is continuously updated with new findings and research. It serves as a valuable resource for scientists, healthcare professionals, and individuals seeking information about genetic conditions. By providing free access to a wealth of knowledge, OMIM plays a vital role in advancing our understanding of rare diseases and improving patient care.

Scientific Articles on PubMed

Mowat-Wilson syndrome is a rare genetic condition that affects multiple systems in the body. It is characterized by distinctive facial features, intellectual disability, and other abnormalities. Here are some scientific articles on PubMed that provide more information about this condition:

• “Mowat-Wilson Syndrome” – This article provides a comprehensive overview of Mowat-Wilson syndrome, including its clinical features, genetic inheritance, and associated medical problems. It also discusses the frequency of the condition and the available resources for testing and support. [1]
• “Mowat-Wilson Syndrome: Clinical Spectrum and Molecular Diagnosis in Seven Patients” – This study describes the clinical and genetic features of seven patients with Mowat-Wilson syndrome. The article highlights the importance of genetic testing in confirming the diagnosis and discusses the role of the ZEB2 gene in causing this condition. [2]
• “Mowat-Wilson Syndrome: A New Multisystem Disorder” – This article reviews the clinical features of Mowat-Wilson syndrome and provides insights into the underlying genetic causes. It discusses the role of the ZEB2 gene and its important function in the development of various tissues and organs. [3]

These articles are just a few examples of the scientific literature available on PubMed regarding Mowat-Wilson syndrome. There are additional resources and publications that can provide more in-depth information on the condition, its genetics, and clinical management.

References

1. Hudgins, L., & Mari, F. (2020). Mowat-Wilson Syndrome. In: GeneReviews® [Internet]. University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1514/
2. Zweier, C., et al. (2005). Mowat-Wilson syndrome: clinical spectrum and molecular diagnosis in seven patients. Am J Med Genet A, 137A(3), 282-5. PMID: 16100718
3. Garavelli, L., et al. (2009). Mowat-Wilson syndrome: a new multisystem mental retardation syndrome involving specific genetic abnormalities. Am J Med Genet A, 149A(9), 1653-61. PMID: 19697443

References

• Mowat D, Wilson MJ, Goossens M. Mowat-Wilson syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK99680/.
• “Mowat-Wilson Syndrome.” Genetic and Rare Diseases Information Center (GARD). National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH). Available from: https://rarediseases.info.nih.gov/diseases/2168/mowat-wilson-syndrome.
• Adam MP, Ardinger HH, Pagon RA, et al., eds. Mowat-Wilson Syndrome. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK99680/.
• Hudgins L. Mowat-Wilson Syndrome. 2002 Mar 19 [Updated 2010 Jul 27]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK99680/.
• Mowat DR, Croaker GD, Cass DT, et al. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J Med Genet. 1998;35(8):617-23. Available from: https://www.ncbi.nlm.nih.gov/pubmed/9719373.
• Zweier C, Peippo MM, Hoyer J, et al. Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet. 2007;80(5):994-1001. Available from: https://www.ncbi.nlm.nih.gov/pubmed/17436252.
• Nyström AM, Ekvall S, Bergqvist I, et al. Cryptic chromosomal imbalances in patients with syndromic obesity and unknown etiology. Obes Facts. 2009;2(1):35-41. Available from: https://www.ncbi.nlm.nih.gov/pubmed/20054225.
• Harville HM, Held S, Diaz-Font A, et al. Expressed gene fusions as frequent drivers of poor outcomes in children with ETV6-RUNX1-positive acute lymphoblastic leukemia. Cancer Cell. 2020;38(1):97-108.e7. Available from: https://www.ncbi.nlm.nih.gov/pubmed/32416071.
• Grossfeld P, Vaucel J, Vinkier S, et al. Overlapping 6p25 deletions in B-cell acute lymphoblastic leukemia. Blood. 1999;94(7):2275-80. Available from: https://www.ncbi.nlm.nih.gov/pubmed/10498591.
• Developmental Disabilities Clinical Center. Mowat-Wilson Syndrome. Available from: http://ddcc.ucsf.edu/ddcc-web.