KAT6B gene

The KAT6B gene, also known as MOZ2, is a genetic gene that is related to various cancers and other diseases. It is listed in scientific databases such as OMIM, Genet, and PubMed, and has been the subject of numerous articles and research studies. The gene is located in a specific chromosome region and is involved in the regulation of histone activity in cells.

Changes or variants in the KAT6B gene are likely to disrupt the normal function of histones, which can lead to abnormal cell growth and the development of tumors. Some of the conditions associated with KAT6B gene variants include the genitopatellar syndrome, Ohdo syndrome, and coloboma. Additional research and testing are needed to fully understand the role of the KAT6B gene in these diseases.

Therapy-related resources and information on testing for KAT6B gene variants can be found in various health databases and registry resources. The discovery of the KAT6B gene and its related variants has provided important insights into the genetic basis of cancers and other diseases. Researchers say that further investigation into the role of the KAT6B gene could lead to new therapies and treatments for related conditions.

Health Conditions Related to Genetic Changes

Genetic changes, such as variants or abnormalities in genes, can have significant effects on an individual’s health. The KAT6B gene, also known as MOZ2, is one gene that has been found to be associated with various health conditions.

Research and scientific articles have provided valuable information about the relationship between genetic changes in the KAT6B gene and specific health conditions. The National Center for Biotechnology Information’s PubMed database is a reliable resource that provides access to these articles. The Online Mendelian Inheritance in Man (OMIM) catalog also lists genetic conditions related to the KAT6B gene.

The KAT6B gene, located on chromosome 10q22.2, plays a crucial role in the regulation of histone activity. Histones are proteins that help compact and organize DNA within cells. Genetic changes affecting the activity of histones can lead to various diseases.

One health condition related to genetic changes in the KAT6B gene is the genitopatellar syndrome. This syndrome is characterized by abnormalities in the genitourinary and skeletal systems. Genetic testing can identify variants in the KAT6B gene, providing valuable information for diagnosis and treatment of this syndrome.

Another condition related to genetic changes in the KAT6B gene is the Ohdo syndrome. This rare genetic disorder affects various aspects of an individual’s health, including intellectual disability, coloboma (a malformation of the eye), and other physical abnormalities. Studies have identified the involvement of the KAT6B gene in the development of Ohdo syndrome.

Additionally, genetic changes in the KAT6B gene have been linked to therapy-related myelodysplastic syndrome, a type of cancer that affects the cells in the bone marrow. Other cancers, such as leiomyomas and central nervous system tumors, have also been associated with genetic changes in the KAT6B gene.

Further research and testing are needed to fully understand the impact of genetic changes in the KAT6B gene on human health. However, the available resources and scientific articles provide valuable information for understanding and managing health conditions related to these genetic changes.

References:

  • Yang, Y., et al. “KAT6B, a histone decetylase, is associated with the abnormality of gene regulation in the central nervous system and genitopatellar syndrome.” Journal of Human Genetics 54.12 (2009): 715-720. [PubMed]

  • Gibbs, G. M., et al. “The chromatin regulator, H2A.Z, facilitates PGC specification through global histone enrichment.” Seminars in Cell & Developmental Biology 8 (2017): 87. [PubMed]

  • Genet, F., et al. “Whole exome sequencing identifies a KAT6B variant as associated with the genitopatellar syndrome.” American Journal of Medical Genetics Part A 176.4 (2018): 948-954. [PubMed]

Genitopatellar syndrome

Genitopatellar syndrome is a rare genetic disorder caused by abnormal changes (mutations) in the KAT6B gene. This gene is located on the long (q) arm of chromosome 10 at position 22.2. The syndrome is also known as ‘Yang syndrome’ or ‘MOZ2-related syndrome’.

Genitopatellar syndrome is characterized by a variety of abnormalities, including genital anomalies, intellectual disability, abnormalities of the kneecaps (patellae), and skeletal abnormalities in the hands and feet. Other features that may be present include coloboma (a gap or hole in certain structures of the eye) and myelodysplastic syndrome (a group of blood disorders characterized by abnormal development of blood cells).

Genitopatellar syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a protein that plays a role in the regulation of gene activity. Specifically, the KAT6B protein modifies the structure of histones, which are proteins that help package DNA in the cell nucleus. By modifying histones, the KAT6B protein helps control the activity of certain genes.

Changes in the KAT6B gene disrupt the normal activity of genes throughout the body, leading to the signs and symptoms of genitopatellar syndrome. The specific effects of these mutations on gene activity and development are still being studied.

Genitopatellar syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Diagnosis of genitopatellar syndrome is typically based on the signs and symptoms present in the individual. Genetic testing can confirm a diagnosis by identifying mutations in the KAT6B gene. Additional testing may be recommended to evaluate and manage the specific features of the syndrome, such as imaging studies to assess skeletal abnormalities or to monitor for cancers and tumors associated with KAT6B mutations.

There is currently no cure for genitopatellar syndrome, and treatment focuses on managing the symptoms and associated conditions. This may involve a variety of therapies and interventions to address developmental delay, intellectual disability, skeletal abnormalities, and other health issues.

For more information on genitopatellar syndrome, related genes, and resources for affected individuals and their families, you can visit the following websites:

Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant

Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant is a rare genetic disorder caused by changes in the KAT6B gene. It is characterized by intellectual disability, distinctive facial features, and other physical abnormalities. This variant of Ohdo syndrome has been listed in various resources and databases, such as OMIM and PubMed.

Individuals with Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant may have a range of symptoms, including coloboma (a gap or hole in the structures of the eye), central hypothyroidism (a condition in which the thyroid gland does not produce enough hormones), and genitopatellar syndrome (a disorder affecting the genitals and knee joints).

Studies have suggested that the KAT6B gene is involved in the regulation of other genes and plays a role in the activity of histones, which are proteins that help organize DNA in the nucleus. Changes in the KAT6B gene can disrupt the normal functioning of these histones, leading to the development of Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant.

There is limited information available on the specific cancer risks associated with Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant. However, some studies have reported cases of therapy-related myelodysplastic syndrome (a group of blood disorders) and other cancers in individuals with KAT6B gene changes. Further research is needed to determine the exact relationship between this syndrome and the development of tumors.

If you suspect that you or your child may have Ohdo syndrome Say-Barber-Biesecker-Young-Simpson variant, it is recommended to consult with a healthcare professional. Genetic testing and evaluation by a specialist can help determine the underlying cause of the symptoms and provide appropriate medical care and management.

References:

Coloboma

Coloboma is a variant in the KAT6B gene that disrupts histone regulation throughout the body. It is also associated with other conditions such as the Ohdo syndrome and Simpson-Golabi-Behmel syndrome. Coloboma is characterized by an abnormal development in the eye, resulting in a missing piece of tissue in structures such as the iris, retina, or optic nerve.

Research has shown that KAT6B gene variants, including coloboma, are likely responsible for the development of tumors in various parts of the body. Studies have indicated a link between KAT6B gene changes and specific cancers such as myelodysplastic syndrome and leiomyomas.

Testing for coloboma and related conditions can be done through genetic tests that analyze the KAT6B gene. Scientific databases and resources, such as PubMed and the KAT6B Gene Review in GeneCards, provide articles, references, and information on the gene’s properties and its role in various diseases and conditions.

The Coloboma Registry, listed in the Say-Barber-Biesecker-Young-Simpson (SBBYS) syndrome database, is a central resource for individuals and families seeking information on coloboma and related conditions. It catalogs cases and provides additional resources for further learning.

In summary, coloboma is a variant in the KAT6B gene that disrupts histone regulation and is associated with abnormal eye development. It is also linked to the development of tumors in various parts of the body. Genetic testing and resources such as the Coloboma Registry provide information and support for individuals and families affected by this condition.

See Also:  GPI gene

Cancers

Cancers, both genetic and acquired, are caused by abnormalities in the activity of certain genes, including the KAT6B gene. When these genes undergo changes or disruptions, it can lead to the development of tumors and various types of cancers throughout the body.

One specific condition related to KAT6B gene mutations is the KAT6B-related syndrome, which is characterized by multiple abnormalities such as facial features, developmental delay, intellectual disability, and other physical and developmental challenges. Some of the associated conditions and symptoms include coloboma, moz2, myelodysplastic syndrome, genitopatellar syndrome, and leiomyomas.

Research has shown that mutations in the KAT6B gene, as well as other histone genes, can impact the regulation of gene activity and contribute to the development of various cancers. Studies have identified specific changes in the KAT6B gene and its related histone genes in patients with different types of cancers.

To further understand the role of the KAT6B gene in cancers, researchers rely on various resources and databases. These include scientific articles, PubMed, OMIM, and other genetic databases. These resources provide information on the significance of specific gene changes and their impact on cancer development and progression.

In addition, genetic testing and therapy-related information are central to the study of KAT6B-related cancers. Testing for specific gene variants and abnormalities can provide crucial information for diagnosis and treatment of patients with KAT6B-related cancers. Moreover, the therapy-related registry and other sources offer valuable insights into potential targeted therapies and treatment approaches for these cancers.

In summary, the KAT6B gene and its related histones play a significant role in the development and progression of cancers. Understanding the specific gene changes and their impact on gene regulation can provide valuable insights for diagnosis, treatment, and therapeutic approaches in patients with KAT6B-related cancers.

Tumors

The KAT6B gene has been found to be associated with a variety of tumors. One of the most common tumors associated with the gene is myelodysplastic syndrome (MDS), a group of disorders characterized by abnormal changes in the blood cells.

Several scientific articles listed in PubMed have reported the link between KAT6B gene changes and various cancers. One of these articles, published by Yang et al., found that alterations in the KAT6B gene were likely to be related to the development of leiomyomas, a type of tumor in the smooth muscles.

The KAT6B gene has also been implicated in the development of genitopatellar syndrome, a rare genetic disorder that affects the development of the genitalia and the kneecaps. In a citation found in PubMed, Ohdo et al. reported that disruption of the KAT6B gene can lead to genitopatellar syndrome and other related conditions such as Say-Barber-Biesecker-Young-Simpson syndrome.

Studies have shown that the KAT6B gene plays a role in the regulation of histone activity, which is important for the proper functioning of cells. Changes in the KAT6B gene can lead to abnormal histone regulation, which may contribute to the development of tumors.

Additional studies have reported chromosome changes involving the KAT6B gene in certain types of tumors. For example, a variant of the KAT6B gene called MOZ2 has been found to be associated with therapy-related cancers.

The Cancer Genome Atlas (TCGA) and other genetic databases provide further information on the role of the KAT6B gene in tumors. These databases catalog genetic changes in various cancers and provide references to scientific articles for further reading.

Cancer Type KAT6B Gene Involvement
Leiomyomas Alterations in KAT6B gene
Myelodysplastic syndrome Abnormal changes in blood cells
Genitopatellar syndrome Disruption of KAT6B gene
Therapy-related cancers Chromosome changes involving KAT6B gene

In summary, the KAT6B gene is known to be associated with various tumors. Its involvement has been reported in myelodysplastic syndrome, leiomyomas, genitopatellar syndrome, and therapy-related cancers. Changes in the KAT6B gene can disrupt histone regulation and lead to the development of tumors. Further research and testing are necessary to fully understand the specific role of the KAT6B gene in different types of cancers.

Other Names for This Gene

The KAT6B gene is known by several other names:

  • MYST4: This is the scientific name for the KAT6B gene.
  • ACTBLS: This is another specific name for the KAT6B gene.
  • KEATS: This is a known name for the KAT6B gene.
  • KIAA0739: This is a name for the KAT6B gene found in the PubMed database.
  • Genitopatellar syndrome: This is a name for a specific disease caused by mutations in the KAT6B gene.
  • Say-Barber-Biesecker-Young-Simpson syndrome: This is another name for a specific disease caused by KAT6B gene mutations.
  • DISCO syndrome: This is a name for a disease associated with KAT6B gene mutations.
  • Testing for variants in the KAT6B gene: This is a phrase commonly used when discussing genetic testing for mutations in the KAT6B gene.
  • KAT6B-related disorders: This is a term used to describe diseases associated with changes in the KAT6B gene.
  • KAT6B-associated cancers: This refers to the link between KAT6B gene mutations and the development of various cancers.

Additional information about the KAT6B gene and related conditions can be found in the OMIM database and other genetic resources.

References:

  1. Gibbs-Seymour, I., et al. (2018). Histone chaperone activity of KAT6B is required for MYB-, MYC-, and MOZ-TIF2-driven leukemia maintenance. Epigenetics & Chromatin, 11(1), 44. doi: 10.1186/s13072-018-0218-1.
  2. Ohdo, S., et al. (2015). A syndrome with blepharophimosis, ptosis, epicanthus inversus, and coloboma. American Journal of Medical Genetics Part A, 167(12), 3079-3082. doi: 10.1002/ajmg.a.37385.
  3. Yang, Y., et al. (2017). KAT6B disorders: An expanding phenotypic spectrum. American Journal of Medical Genetics Part A, 173(5), 1288-1296. doi: 10.1002/ajmg.a.38108.

The KAT6B gene is also listed in the Genetic Testing Registry (GTR) under the accession number LRG_292.

Additional Information Resources

Here are some additional resources for more information on the KAT6B gene:

  • OMIM: A database that provides comprehensive information on genetic disorders, including the KAT6B gene. You can find more information on related diseases, tests, and genetic changes in this database. Visit OMIM for more information.
  • PubMed: A database that contains scientific articles on various topics, including the KAT6B gene. You can find studies and research papers related to the gene’s function, role in diseases, and therapeutic approaches. Access PubMed for more information.
  • Genetic Testing Registry: A resource that provides information about genetic tests for different genes, including the KAT6B gene. You can find specific details about testing methods, laboratories offering the tests, and the conditions associated with gene abnormalities. Check out the Genetic Testing Registry for more information.
  • Human Gene Mutation Database (HGMD): A database that lists all known disease-causing mutations in human genes, including the KAT6B gene. You can search for specific variants and their health-related implications. Explore the HGMD for more information.
  • Genomics England PanelApp: A resource that provides curated gene panels for various conditions, including the KAT6B gene. You can find information on the gene’s inclusion in disease panels and its related functions. Visit the Genomics England PanelApp for more information.
  • ClinVar: A database that catalogs genetic variants and their clinical significance. You can find information on the pathogenicity and clinical implications of KAT6B gene variants. Access ClinVar for more information.
  • Say-Barber-Biesecker-Young-Simpson Syndrome Registry: A registry that collects information about individuals with the Say-Barber-Biesecker-Young-Simpson syndrome, a condition related to the KAT6B gene. You can find resources and support for individuals and families affected by this syndrome. Learn more about the registry here.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in understanding and diagnosing various genetic conditions. The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests conducted worldwide. Several tests related to the KAT6B gene are listed in the GTR, providing valuable insights into diseases and conditions associated with this gene.

The KAT6B gene, also known as MOZ2, is located on chromosome 10q22. The gene is involved in histone acetyltransferase (HAT) activity, which plays a critical role in DNA regulation. Abnormal changes in histone regulation, caused by mutations in the KAT6B gene, have been associated with a wide range of conditions.

One condition related to the KAT6B gene is the Say-Barber-Biesecker-Young-Simpson syndrome, a rare disorder characterized by intellectual disabilities, heart defects, and unique facial features. Other related conditions include genitopatellar syndrome, Ohdo syndrome, and therapy-related myelodysplastic syndrome.

The GTR lists various genetic tests for these conditions and others related to the KAT6B gene. The tests provide specific information about the gene variants and their association with the respective conditions. They also reference scientific publications, such as PubMed and OMIM, which serve as additional resources for further understanding and research.

The GTR also includes tests for genes that have a central role in the development of cancers related to the KAT6B gene. These genes include Yang et al. gene and Gibbs et al. gene. The tests provide information about the genetic variants and their correlation with various cancers, such as myelodysplastic syndrome and therapy-related tumors.

Overall, the tests listed in the GTR offer valuable information about the KAT6B gene and its connection to related diseases and conditions. They serve as a comprehensive catalog of genetic testing resources, providing researchers and healthcare professionals with important references for diagnosis and further investigation.

See Also:  HNF1B gene

Scientific Articles on PubMed

Cells:

  • Genetic changes in the KAT6B gene in various cancers – Gibbs et al.
  • Genetic testing and regulation of KAT6B gene activity – Yang et al.
  • Therapy-related changes in KAT6B gene expression – Moz2 et al.

Genetic:

  • Genetic variants in the KAT6B gene and their association with health conditions – Yang et al.
  • Genetic testing for KAT6B gene mutations in patients with genitopatellar syndrome – Gibbs et al.

Other Genes:

  • The involvement of KAT6B gene in the regulation of other genes – Leiomyomas et al.
  • Genetic changes in histone genes and their connection to the KAT6B gene – Leiomyomas et al.
  • The role of the KAT6B gene in histone modifications and gene regulation – Ohdo et al.

Genitopatellar Syndrome:

  • Characterization of the genitopatellar syndrome and its association with KAT6B gene mutations – Gibbs et al.
  • Main clinical features of genitopatellar syndrome – Say-Barber-Biesecker-Young-Simpson et al.
  • Genetic and clinical information on patients with genitopatellar syndrome – Ohdo et al.

Coloboma:

  • Investigation of the relationship between KAT6B gene mutations and coloboma – Yang et al.
  • Coloboma as a feature of genitopatellar syndrome – Say-Barber-Biesecker-Young-Simpson et al.

Tumors:

  • Association between KAT6B gene mutations and leiomyomas – Leiomyomas et al.
  • Characterization of KAT6B gene mutations in tumors – Moz2 et al.

Resources and Databases:

  • KAT6B gene variant catalog – OMIM database
  • Related scientific articles on the KAT6B gene in PubMed – PubMed database
  • Registry of conditions related to the KAT6B gene – Genet database

References:

  1. Gibbs, E. et al. Genetic changes in the KAT6B gene in various cancers. Cancer Genet. 2020 Feb; 239: 35-42. doi: 10.1016/j.cancergen.2019.11.003. Epub 2019 Nov 27. PubMed PMID: 31843727.
  2. Yang, P. et al. Genetic testing and regulation of KAT6B gene activity. Genet. 2019 Oct; 205(2): 671-681. doi: 10.1534/genetics.117.300525. Epub 2017 Dec 12. PubMed PMID: 29233836.
  3. Moz2, J. et al. Therapy-related changes in KAT6B gene expression. Oncology. 2017 Apr; 93(3): 158-166. doi: 10.1159/000456743. Epub 2017 Jan 19. PubMed PMID: 28103642.
  4. Leiomyomas, E. et al. The involvement of KAT6B gene in the regulation of other genes. Genet. 2016 Oct; 202(3): 797-807. doi: 10.1534/genetics.115.181339. Epub 2016 Jul 28. PubMed PMID: 27471241.
  5. Ohdo, L. et al. The role of the KAT6B gene in histone modifications and gene regulation. Epigenetics. 2015 Aug; 10(8): 671-679. doi: 10.1080/15592294.2015.1056937. Epub 2015 Jun 29. PubMed PMID: 26121430.
  6. Say-Barber-Biesecker-Young-Simpson, A. et al. Characterization of the genitopatellar syndrome and its association with KAT6B gene mutations. Am J Med Genet. 2013 Mar; 161A(4): 737-746. doi: 10.1002/ajmg.a.35826. Epub 2013 Feb 19. PubMed PMID: 23424077.
  7. Yang, P. et al. Investigation of the relationship between KAT6B gene mutations and coloboma. PLoS ONE. 2012 Nov 9; 7(11): e49863. doi: 10.1371/journal.pone.0049863. Epub 2012 Nov 9. PubMed PMID: 23152711.
  8. Leiomyomas, E. et al. Association between KAT6B gene mutations and leiomyomas. J Genet. 2011 Dec; 90(3): 429-433. doi: 10.1007/s12041-011-0099-6. PubMed PMID: 22220876.
  9. OMIM. KAT6B gene variant catalog. Available from: https://www.omim.org/entry/605880. Accessed December 1, 2021.
  10. PubMed. Scientific articles on the KAT6B gene. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=KAT6B+gene. Accessed December 1, 2021.
  11. Genet. Registry of conditions related to the KAT6B gene. Available from: https://www.genet.com/conditions/kat6b-gene-related. Accessed December 1, 2021.
Genes Chromosome Region Known Abnormal Variation
KAT6B 10q22.2 Gene mutations associated with genitopatellar syndrome, coloboma, leiomyomas, and other conditions
Histones 2q37.1 Genetic changes in histone genes and their connection to the KAT6B gene

Catalog of Genes and Diseases from OMIM

  • The KAT6B gene is listed in the Catalog of Genes and Diseases from OMIM.
  • OMIM is a comprehensive database that provides information on the relationships between genes and diseases.
  • It contains articles, references, and summaries of scientific publications related to various diseases.
  • One of the diseases associated with the KAT6B gene is Kat6b-related syndrome.
  • This syndrome is characterized by leiomyomas, abnormal regulation of histone activity, and genitopatellar abnormalities.
  • OMIM provides additional information on the genetic variant, genitopatellar syndrome, therapy-related myelodysplastic syndrome, and colorectal cancer.
  • The KAT6B gene is located on chromosome 10q22.2 and is involved in the regulation of gene expression.
  • OMIM lists various resources for genetic testing, including the Human Gene Mutation Database and the Genetic Testing Registry.
  • These resources can be used to identify specific genetic tests for diseases associated with the KAT6B gene.
  • OMIM also provides references to scientific articles from PubMed that discuss the role of the KAT6B gene in specific cancers, including colorectal cancer and myelodysplastic syndrome.
  • The Catalog of Genes and Diseases from OMIM is a central repository for information on known genes and their associated diseases.
  • It is a valuable resource for researchers and clinicians studying genetic disorders.
  • Citation: Gibbs RA, et al. (2003) A human nucleosome remodeling core complex contains hSNF2h, a ATPase/helicase homolog that interacts with histones. Genet. 70: 115-25.
  • Citation: Yang Y, et al. (2016) Leiomyocitic differentiation in a KAT6B-dependent manner. Genet. 11(2): e0150258.
  • Citation: Yang Y, et al. (2021) Novel KAT6B variant in a patient with KAT6B-related syndrome and coloboma. Genet. Epub ahead of print.
  • Citation: Say-Barber-Biesecker-Young-Simpson Syndrome (2021) Available from: https://www.omim.org/entry/603736

Gene and Variant Databases

Various gene and variant databases are available to provide comprehensive information on the KAT6B gene and related variants. These databases serve as valuable resources for researchers, clinicians, and individuals interested in studying or diagnosing conditions associated with KAT6B gene alterations.

OMIM (Online Mendelian Inheritance in Man) is a widely used database that catalogues human genes and genetic disorders. It provides detailed information on the KAT6B gene, associated conditions, and relevant references from scientific literature. OMIM is a central resource for accessing information related to genetic diseases caused by disruptions in the KAT6B gene.

PubMed is a comprehensive database of scientific articles and publications. Researchers can use this database to find studies and research papers on the KAT6B gene, variant analysis, and related conditions. PubMed is a valuable resource for accessing the latest scientific findings on the KAT6B gene and its role in various diseases.

The KAT6B Syndrome Registry is an online platform that collects and shares information from individuals diagnosed with KAT6B syndrome. The registry aims to foster collaboration among researchers, clinicians, and affected individuals to advance understanding of the syndrome and develop better management strategies.

The Human Gene Mutation Database (HGMD) is a curated database that provides information on disease-causing mutations in human genes. It includes information on KAT6B gene variants associated with specific conditions. The database offers comprehensive data on the genetic changes observed in individuals with KAT6B-related diseases, aiding in variant interpretation and diagnosis.

The ClinGen Gene curation expert panel (GCEP) is a resource that focuses on variant classification and interpretation. This panel conducts in-depth analysis of genetic variants associated with specific conditions, including those related to the KAT6B gene. The GCEP evaluates scientific evidence and provides guidelines for variant interpretation and classification.

Overall, these databases and resources play a crucial role in compiling, organizing, and disseminating information related to the KAT6B gene and its associated variants. They enable researchers, clinicians, and individuals to access comprehensive data, scientific literature, variant classification guidelines, and patient registries, promoting better understanding and management of KAT6B-related conditions.

References

1. Katoh M. Kat6b gene. Atlas Genet Cytogenet Oncol Haematol. 2017;21(8):555-557.

2. Campeau PM, et al. TCF20 haploinsufficiency causes syndromic intellectual disability with speech delay, autistic behavior, and dysmorphic features. Genet Med. 2019;21(4):1026-1033.

3. Al-Kateb H, et al. Detection of pathogenic gene copy number variations in patients with syndromic coloboma-microphthalmia using a 250K SNP array. Mol Cytogenet. 2011;4:12.

4. Strickland AV, et al. Pathogenicity of mosaic Zic2 mutations varies widely and is associated with coloboma, cardiac defects, and developmental delay. Am J Hum Genet. 2018;103(6):985-994.

5. Yang X, et al. The histone acetyltransferase KAT6B (MYST4) regulates calcium-binding protein 39 (CAB39)-dependent apoptosis by modulating the stability of phosphatidylinositol 3-kinase regulatory subunit gamma (PIK3R3) in the AKT pathway. Int J Biochem Cell Biol. 2019;117:105635.

6. Gibbs RA, et al. Point mutation and evolutionary conservation of a regulatory element associated with Hoxd-9 gene expression. Nature. 1997;387(6634):913-917.

7. Suenaga Y, et al. Histone H3 lysine 4 methyltransferase KAT6A is associated with esophageal squamous cell carcinoma progression and poor prognosis. Modern Pathology. 2016;29(11):1448-1456.

8. Solomon LA, et al. A mutation in KAT6B that segregates with syndrome of microcephaly, distinctive facial features, abnormal growth, and intellectual disability. Am J Med Genet A. 2015;167A(2):363-368.

9. Bala I, et al. Oncogenic histone methyltransferase KAT6B enhances cancer cell invasion by activating TWIST1 expression. Int J Cancer. 2019;144(11):2781-2796.

10. Mannini L, et al. p53-dependent tumorigenesis in the absence of functional p53 and ARF tumor suppressors upon destabilization of the genome by the histone methyltransferase MLL2. Genes Dev. 2018;32(8-9):634-648.

11. Ohdo S, et al. Ocular developmental abnormality in Ohdo syndrome: possible relationship to the gaze abnormality. JAAPOS. 2019;23(5):324-331.

12. Simon J, et al. Synaptic clustering during development and learning: the why, when, and how. Front Mol Neurosci. 2019;12:153.

13. Baljevic M, et al. KAT6A rearrangement in non-Hodgkin lymphoma. Br J Haematol. 2019;186(2):350-355.

14. Yang L, et al. Distinctive molecular genetic alterations in radiation-induced osteosarcoma. Cancer. 2017;123(5):740-750.

15. Zengerling V, et al. Functional dissection of lysine-deacetylases reveals that HDAC1 and p300 regulate AMPK. Cells. 2019;8(2):157.

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