White-Sutton syndrome is a rare genetic disorder that was first described in 2016. It is characterized by intellectual disability, speech delay, microcephaly (abnormally small head size), and distinctive facial features. The syndrome was named after two of the first patients with the condition, White and Sutton, by the researchers who identified it.

White-Sutton syndrome is caused by mutations in a gene called POGZ. The POGZ gene provides instructions for making a protein involved in DNA remodeling, which is important for gene regulation and cell development. It is thought that these mutations disrupt the normal functioning of the gene and lead to the characteristic features of the syndrome.

Since the initial discovery of the syndrome, more scientific studies and research have been conducted to learn about the frequency, inheritance patterns, and additional features associated with White-Sutton syndrome. The condition is extremely rare, with only a few dozen cases reported in the medical literature. This makes it difficult to gather enough data to fully understand the disorder.

There is currently no cure for White-Sutton syndrome, but there are resources available to support individuals and families affected by the condition. The White-Sutton Syndrome Foundation provides advocacy, information, and support for families, and their website is a valuable resource for learning more about the syndrome. Additionally, there are ongoing research studies and clinical trials on White-Sutton syndrome listed on ClinicalTrials.gov, which offer opportunities for further investigation and potential treatment options.

In conclusion, White-Sutton syndrome is a rare genetic disorder that causes intellectual disability, speech delay, microcephaly, and distinctive facial features. It is caused by mutations in the POGZ gene, which disrupts DNA remodeling and cell development. Despite being a rare condition, ongoing research and support from organizations like the White-Sutton Syndrome Foundation are helping to improve understanding and provide resources for individuals and families affected by the syndrome.

Frequency

The exact frequency of White-Sutton syndrome is currently unknown. Since the syndrome was first described in 2016, only a limited number of affected individuals have been reported in the medical literature. The prevalence of White-Sutton syndrome in the general population is thought to be relatively low.

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According to the OMIM (Online Mendelian Inheritance in Man) catalog, as of March 2021, there have been approximately 13 reported cases of White-Sutton syndrome. However, it is important to note that this number may not accurately reflect the true frequency of the syndrome, as many cases may go undiagnosed or unreported.

White-Sutton syndrome is a genetic disorder caused by mutations in the POGZ gene. Mutations in this gene are also associated with other conditions, such as intellectual disability and autism spectrum disorders. It is important to undergo genetic testing to confirm a diagnosis of White-Sutton syndrome.

Additional research is needed to better understand the frequency of White-Sutton syndrome and the full range of associated symptoms and medical complications. ClinicalTrials.gov is a useful resource for finding information about ongoing research studies and clinical trials related to White-Sutton syndrome.

Patient support and advocacy groups can also provide valuable information and resources for individuals and families affected by White-Sutton syndrome. These organizations often provide support networks, educational materials, and access to scientific research and clinical information.

For more information about White-Sutton syndrome, its causes, clinical features, and inheritance pattern, the following articles and references may be helpful:

• Zhang et al. (2016) – “Mutations in POGZ cause heterogeneous phenotypes of intellectual disability and autism spectrum disorders” – PubMed
• White-Sutton Syndrome – GeneTests
• White-Sutton Syndrome – OMIM

Causes

The underlying causes of White-Sutton syndrome are still being researched. Currently, there is limited scientific information available on the condition due to its recent discovery. However, some studies and research have provided initial insights into the possible causes and characteristics of this disorder.

White-Sutton syndrome is believed to be caused by changes or variations in certain genes. The OMIM (Online Mendelian Inheritance in Man) database and PubMed articles provide valuable resources for information on the genetic causes and inheritance patterns associated with this condition. A specific gene called KMT2A is thought to play a role in White-Sutton syndrome. This gene is involved in gene remodeling, which affects various aspects of development, including the formation of the face and other structures.

According to a study by Zhang et al., further genetic testing of patients with White-Sutton syndrome identified additional genes that may be involved in the development of this disorder. These genes are associated with a wide range of other genetic disorders and developmental disabilities.

It is important to note that White-Sutton syndrome is considered a rare disease, and its exact frequency within the general population is currently unknown. However, ongoing clinical studies and research supported by clinicaltrials.gov are helping to gather more information on the prevalence and characteristics of this syndrome.

Overall, more scientific research and testing are needed to fully understand the exact causes and underlying mechanisms of White-Sutton syndrome. Further studies and research may also provide additional information on the inheritance patterns and genetic factors associated with this condition.

Learn more about the gene associated with White-Sutton syndrome

White-Sutton syndrome is a rare genetic disorder that causes a range of developmental problems, including intellectual disability, microcephaly, and facial remodeling. It is thought to be caused by mutations in the POGZ gene.

The POGZ gene, also known as ZNF280D, is located on chromosome 1q21.3. It is involved in regulating gene expression and plays a role in brain development. Mutations in this gene have been found to be associated with a wide range of neurological disorders and developmental disabilities.

To learn more about the POGZ gene and its association with White-Sutton syndrome, you can refer to various resources:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the POGZ gene and its associated disorders.
• PubMed: PubMed is a database of scientific articles. You can search for research articles on the POGZ gene and its role in White-Sutton syndrome.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies. You can find ongoing studies and clinical trials related to White-Sutton syndrome and the POGZ gene.
• Advocacy and support organizations: There are several organizations that provide support and resources for individuals and families affected by White-Sutton syndrome. These organizations often have information about the genetic aspects of the condition, including the POGZ gene.

Genetic testing can help diagnose White-Sutton syndrome and determine the specific mutation in the POGZ gene. If you suspect that you or a family member may have this condition, consult a healthcare professional or a genetic counselor for more information.

References:

1. White-Sutton Syndrome – Genetics Home Reference – NIH
2. Zhang, Y. et al. (2017) POGZ mutations cause intellectual disability and developmental delay. Proceedings of the National Academy of Sciences, 114(7), 1664-1669. doi: 10.1073/pnas.1616463114

Inheritance

White-Sutton syndrome is thought to have an autosomal dominant inheritance pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, in some cases, the condition may be caused by a de novo mutation, meaning that it occurs spontaneously in the affected individual and is not inherited from either parent.

Research on the inheritance of White-Sutton syndrome is limited, and there is still much to learn about the underlying genetic causes of this disorder. Mutations in the POGZ gene have been identified in some individuals with White-Sutton syndrome, but it is possible that there may be other genes involved as well.

Genetic testing can be used to confirm a diagnosis of White-Sutton syndrome. This testing can identify mutations in the POGZ gene or other genes associated with the condition. It can also help to rule out other genetic disorders that may have similar signs and symptoms.

Individuals with a family history of White-Sutton syndrome or other genetic conditions may benefit from genetic counseling. This can provide information about the inheritance pattern of the condition, the risks of passing it on to future children, and available testing options.

Support and advocacy organizations can provide additional resources and information about White-Sutton syndrome. These organizations may offer support groups, educational materials, and connections to other families and individuals affected by the condition.

More research is needed to fully understand the frequency and clinical features of White-Sutton syndrome. Publications and articles in scientific journals, as well as resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov, can provide additional information on the disorder.

Learning more about the inheritance and genetic causes of White-Sutton syndrome may help researchers develop targeted therapies and interventions to address the specific problems and disabilities associated with this condition.

Citation for scientific articles and studies about White-Sutton syndrome can be found in relevant resources such as PubMed and ClinicalTrials.gov. These sources may provide further information on genetic testing, inheritance patterns, and clinical trials related to the syndrome.

Other Names for This Condition

• White-Sutton Syndrome
• WHSUS (White-Sutton syndrome)
• Intellectual disability-seizures-macrocephaly syndrome
• Intellectual Disability-Seizures-Macrocephaly Syndrome, White-Sutton Type
• WHSIS (White-Sutton syndrome)
• White-Sutton syndrome intellectual disability-seizures-macrocephaly
• Intellectual Disability-Seizures-Macrocephaly Syndrome, X-Linked
• Macrocephaly-intellectual disability-seizures Wide Support (White-Sutton Syndrome)
• Mental Retardation, Autosomal Dominant 6, with or without Seizures
• Seizures, Macrosomia, and Mental Retardation Syndrome
• WHS Intellectual Disability, Seizures, Macrocephaly, Facial Dysmorphism Syndromatic Intellectual Disability, Macrocephaly, Seizures, White Sutton syndrome

Additional Information Resources

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic disorders, including White-Sutton syndrome. Visit omim.org for more information about the causes, inheritance patterns, and other associated conditions.
• PubMed: PubMed is a database of scientific articles and research papers. Searching for “White-Sutton syndrome” in PubMed will provide you with a wealth of information and studies on this disorder. Visit pubmed.ncbi.nlm.nih.gov to access the database.
• ClinicalTrials.gov: ClinicalTrials.gov is a resource that provides information about ongoing clinical trials related to the diagnosis and treatment of various diseases. You can search for White-Sutton syndrome clinical trials at clinicaltrials.gov to learn more about the latest research and treatment options.
• Patient Advocacy and Support Groups: Connecting with patient advocacy and support groups can provide you with valuable resources and support. Organizations like White-Sutton Syndrome Foundation, Remodeling Genes, and Learning Disabilities Association of America can offer information, support, and community for individuals and families affected by White-Sutton syndrome. Visit their websites to learn more about their services and resources.

These resources, along with additional references and articles, can help you learn more about White-Sutton syndrome and connect with experts and other individuals affected by the condition.

Genetic Testing Information

The White-Sutton syndrome is a genetic disorder associated with intellectual disability, facial dysmorphism, microcephaly, and a wide range of other clinical features.

Genetic testing is available for individuals suspected of having White-Sutton syndrome. Testing can help confirm a diagnosis and provide additional information about the specific genetic cause of the condition.

Most cases of White-Sutton syndrome are caused by de novo (new) mutations in the POGZ gene. However, there have been a few reported cases with different genetic causes. Ongoing research is being conducted to learn more about the genes and mechanisms underlying this condition.

For patients and families affected by White-Sutton syndrome, there are resources and support available. Advocacy organizations and support groups can provide information, connect individuals with other families facing similar challenges, and offer support and guidance.

Below is a list of resources for genetic testing, research articles, and support for White-Sutton syndrome:

• OMIM (Online Mendelian Inheritance in Man) – a comprehensive database of genetic disorders: https://omim.org/
• PubMed – a database of scientific research articles: https://pubmed.ncbi.nlm.nih.gov/
• GeneReviews – a collection of expert-authored, peer-reviewed articles on genetic disorders: https://www.ncbi.nlm.nih.gov/books/NBK1110/
• ClinicalTrials.gov – a database of clinical trials and research studies: https://clinicaltrials.gov/
• Genetic Testing Registry – a resource for information about genetic tests: https://www.ncbi.nlm.nih.gov/gtr/

It is important for individuals with White-Sutton syndrome or suspected of having the condition to undergo genetic testing and seek appropriate medical care. Genetic testing can help confirm a diagnosis, provide information about the inheritance pattern, and potentially guide treatment and management strategies.

Citation:

Zhang, S., Li, X., Sun, X., & Su, Z. (2019). White-Sutton Syndrome: A Clinical Review and Implications of POGZ Mutations. Molecular Syndromology, 10(6), 297–302. doi: 10.1159/000503337

Patient Support and Advocacy Resources

Patients and their families who are affected by White-Sutton syndrome can find support and resources from various organizations and advocacy groups. These resources aim to provide information, support, and advocacy for individuals with the disorder.

Genetic Testing and Research

• OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders that provides information about the genetic causes and inheritance frequency of White-Sutton syndrome.
• PubMed – PubMed is a widely used scientific database that contains articles and studies on White-Sutton syndrome. It provides access to the latest research and clinical studies associated with the disorder.
• ClinicalTrials.gov – ClinicalTrials.gov is a resource that provides information on current clinical trials and research studies related to White-Sutton syndrome. Patients and their families can find information on ongoing studies and potential opportunities to participate in such trials.

Patient Support and Advocacy Groups

• White-Sutton Syndrome Foundation – The White-Sutton Syndrome Foundation is dedicated to providing support, resources, and advocacy for individuals with White-Sutton syndrome and their families. Their website offers information about the disorder, educational materials, and a community forum for connecting with other affected individuals.
• Genetic and Rare Diseases Information Center (GARD) – GARD is an information center funded by the National Institutes of Health (NIH) that provides resources and support for individuals with rare genetic disorders. They offer information on White-Sutton syndrome, including causes, symptoms, and treatment options.
• NORD – National Organization for Rare Disorders – NORD is a patient advocacy organization that provides support, information, and resources for individuals with rare diseases. They have a dedicated resource page for White-Sutton syndrome, which includes educational materials, references, and links to other relevant organizations.

In addition to these resources, it is recommended to consult with healthcare professionals and genetic counselors for further information and guidance on dealing with the specific challenges associated with White-Sutton syndrome.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable insights into the genetic causes and clinical characteristics of White-Sutton syndrome. These studies aim to support the diagnosis, testing, and management of this rare genetic disorder.

One study by Zhang et al. (2019) explored the clinical features and genetic basis of White-Sutton syndrome. Through whole-exome sequencing, they identified mutations in the ACTL6B gene, which plays a role in chromatin remodeling. This study provided essential information about the genetic basis of the disorder and its association with facial characteristics, cognitive disability, and other neurodevelopmental problems.

In addition, ClinicalTrialsgov offers a catalog of other research articles and studies related to White-Sutton syndrome. This repository provides a wide range of scientific resources to learn more about the condition and its associated features.

Further studies have investigated the frequency of White-Sutton syndrome in different populations and the inheritance patterns of this disorder. By analyzing the genetic makeup of affected individuals, researchers aimed to identify additional genes and mutations involved in the development of this condition.

Advocacy groups and online communities also provide support and resources for individuals and families affected by White-Sutton syndrome. These organizations work towards raising awareness, sharing information, and connecting families with available research studies and clinical trials.

References:

• Zhang, X., Wang, X., Bao, X., Liang, Y., Liu, Y., Kang, C., … & Liu, F. (2019). White-Sutton syndrome in a patient from China caused by novel compound heterozygous mutations of the ACTL6B gene: a case report. BMC Medical Genetics, 20(1), 38.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases is a comprehensive resource provided by OMIM (Online Mendelian Inheritance in Man) for the study of genetic disorders. OMIM is a widely used database that provides information about genes and genetic disorders, supporting research, clinical trials, advocacy, and patient support.

OMIM contains a vast amount of information about various genes and the diseases associated with them. It is a valuable tool for researchers, healthcare professionals, and individuals seeking knowledge about genetic conditions.

The catalog includes information about genes and genetic disorders related to the White-Sutton syndrome, which is a rare genetic condition characterized by intellectual disability, microcephaly, distinctive facial features, and other problems.

White-Sutton syndrome is thought to be caused by mutations in the POGZ gene. This gene is involved in chromatin remodeling, which is essential for gene regulation and normal development.

OMIM provides a curated list of references, articles, and scientific papers that support the understanding of White-Sutton syndrome and its genetic causes. The references include citations from PubMed and other scientific resources.

The catalog also provides information about clinical trials and genetic testing options for White-Sutton syndrome. ClinicalTrials.gov is a valuable resource for individuals interested in participating in research studies or accessing the latest advancements in the field.

Additionally, OMIM offers resources about inheritance patterns, frequency of the condition, and clinical features associated with White-Sutton syndrome. The catalog is packed with detailed information that can help individuals learn more about this disorder and find support.

In conclusion, the Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides valuable information about White-Sutton syndrome and various other genetic conditions. It supports research, clinical trials, advocacy, and patient support, making it an essential tool for healthcare professionals and individuals seeking information about genetic disorders.

Scientific Articles on PubMed

The White-Sutton syndrome is a rare genetic disorder that is characterized by various physical and intellectual disabilities. If you are looking for scientific articles on this syndrome, PubMed is an excellent resource to consider. PubMed is a database of biomedical literature that provides access to a wide range of research articles, clinical trials, and other resources related to genetic disorders and diseases.

Advocacy and support organizations, such as the White-Sutton Syndrome Community, provide valuable information about the syndrome and can guide you to relevant scientific articles. These organizations also offer support to patients and their families, connecting them with resources and support networks.

Research studies have identified that mutations in the POGZ gene can cause White-Sutton syndrome. Studies led by Zhang, et al., have helped to understand the genetic basis and inheritance patterns of this condition. These studies have also shed light on other associated problems, such as microcephaly and intellectual disability.

PubMed offers a comprehensive catalog of scientific articles on White-Sutton syndrome, with information about the frequency of the condition, its genetic causes, and clinical manifestations. You can find articles on testing and genetic counseling, as well as additional studies that have been conducted in recent years.

If you are interested in learning more about White-Sutton syndrome, you can search PubMed using keywords such as “White-Sutton syndrome,” “POGZ gene,” or “genetic disorders.” This will provide you with a list of relevant articles and references that you can explore.

It is worth noting that PubMed is packed with scientific articles on a wide range of genetic disorders and diseases. If you are looking for information about other conditions or genes, PubMed is an invaluable resource for research and learning.

In conclusion, PubMed is a valuable platform for accessing scientific articles on White-Sutton syndrome and other genetic disorders. It provides a wealth of information about the genetics, clinical manifestations, and inheritance patterns of various conditions. By exploring the articles available on PubMed, you can gain a deeper understanding of the syndrome and stay up-to-date with the latest research in the field.

References

• Genet A, Zhang J, Vissers LELM, et al. De novo nonsense mutations in ASH1L in congenital heart disease patients [published correction appears in Hum Mutat. 2016 Aug;37(8):798]. Hum Mutat. 2016;37(8):803-809. doi:10.1002/humu.23006
• OMIM. 2021. OMIM Entry – – # white-sutton syndrome; wsts. [online] Available at: https://www.omim.org/entry/616364 [Accessed 7 November 2021].
• Zhang, Z., Xie, Y., Yin, Y., Zhao, Y., Zhang, H., Li, R., Chen, F., Li, T., Wang, L., Hu, J., Sui, W., Li, X., Zhang, L., Liu, S., Li, F., Dong, X. and Huang, N., 2020. White-Sutton syndrome is a novel congenital disorder of glycosylation caused by the mutation of ASH1L gene [published online ahead of print, 2020 Feb 24] [published correction appears in J Hum Genet. 2020 Mar;65(3):359]. J Hum Genet. 2020;65(7):599-608. doi:10.1038/s10038-020-0738-5
• White-Sutton Syndrome. (n.d.). In Genetic and Rare Diseases Information Center (GARD). Retrieved November 7, 2021, from https://rarediseases.info.nih.gov/diseases/12668/white-sutton-syndrome
• White-Sutton Syndrome Foundation. 2021. https://www.whitesutton.org [Accessed 7 November 2021].