Donnai-Barrow syndrome is a rare genetic disorder associated with abnormalities in multiple organs and systems. It is characterized by facial dysmorphisms, hearing loss, intellectual disability, and agenesis of the corpus callosum. The syndrome was first described in 1993 by Donnai and Barrow.

Advocacy and support for patients and families affected by Donnai-Barrow syndrome is crucial. Organizations such as the Genetic and Rare Diseases Information Center and the National Organization for Rare Disorders provide resources, information, and support to help patients and families learn more about this condition.

Research on Donnai-Barrow syndrome is ongoing. Scientific studies and clinical trials are conducted to better understand its causes, inheritance patterns, and possible treatment options. The syndrome has been associated with mutations in the LRP2 gene, which plays a role in the development and function of multiple organs, including the kidneys, lungs, and central nervous system.

Testing for Donnai-Barrow syndrome can be done through genetic testing to identify mutations in the LRP2 gene. Additional studies are being done to identify other genes that may be associated with the syndrome. PubMed and OMIM are valuable resources for finding articles and references about Donnai-Barrow syndrome and related disorders.

Donnai-Barrow syndrome is a complex condition that requires a multidisciplinary approach to diagnosis and management. Medical professionals, including geneticists, neurologists, and audiologists, work together to provide comprehensive care for patients. Treatment options focus on managing specific symptoms and improving quality of life for affected individuals.

Frequency

Donnai-Barrow syndrome is a rare genetic condition caused by mutations in the LRP2 gene. According to research, the frequency of this syndrome is still unknown. It is estimated to be a very rare syndrome, with only a few cases reported in the medical literature.

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As of now, the exact number of individuals affected by Donnai-Barrow syndrome is uncertain. This is mainly due to the rarity of the condition and limited research on its prevalence.

The LRP2 gene, also known as the low-density lipoprotein receptor-related protein 2, is responsible for the production of a protein that plays a crucial role in the development of various organs and tissues in the body.

Research on Donnai-Barrow syndrome is ongoing, with studies being conducted to understand its genetic causes, clinical features, and long-term outcomes. These studies aim to provide more information about the syndrome and improve diagnostic and treatment approaches.

Information about Donnai-Barrow syndrome can be found on resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases contain scientific articles and additional references on genetic disorders, including Donnai-Barrow syndrome.

ClinicalTrials.gov, another valuable resource, provides information on ongoing or completed clinical trials related to Donnai-Barrow syndrome. These trials may aim to test new treatments or further investigate the genetic and clinical aspects of the syndrome.

Patient advocacy groups and support organizations can also offer support, information, and resources to individuals and families affected by Donnai-Barrow syndrome. These organizations may provide assistance with genetic testing, connect individuals to research studies, and offer support and educational materials.

It is important for parents, healthcare professionals, and individuals with Donnai-Barrow syndrome to stay updated on the latest scientific research and information about the syndrome. By staying informed, they can make more informed decisions regarding healthcare and quality of life.

In summary, Donnai-Barrow syndrome is a rare genetic condition caused by mutations in the LRP2 gene. Its exact frequency is still unknown, but it is considered to be a very rare syndrome. Ongoing research and resources provide valuable information and support for individuals and families affected by this syndrome.

Causes

The Donnai-Barrow syndrome, also known as facio-oculo-acoustic-renal (FOAR) syndrome, is a rare genetic disorder that affects various organs and systems in the body. It is caused by mutations in the LRP2 gene, which provides instructions for making a protein called megalin.

The LRP2 gene is responsible for the production of megalin, which plays a crucial role in the function of multiple organs, including the brain, eyes, ears, and kidneys. Megalin is involved in the transportation of certain substances between cells and is essential for the development and maintenance of these organs.

The specific mutations in the LRP2 gene that cause Donnai-Barrow syndrome result in the production of a nonfunctional or partially functional megalin protein. This leads to impaired transportation of substances across cells, resulting in the characteristic features of the syndrome.

Donnai-Barrow syndrome is inherited in an autosomal recessive pattern, which means that an affected individual must inherit two copies of the mutated LRP2 gene – one from each parent. Both parents of an affected individual are carriers of a single copy of the mutated gene, but do not show symptoms.

The distinctive features of Donnai-Barrow syndrome include facial anomalies, intellectual disability, hearing loss, and kidney abnormalities. The syndrome is also associated with a range of other rare disorders, such as Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL), which is caused by mutations in the SHOC2 gene.

Research and scientific studies on Donnai-Barrow syndrome and related disorders are ongoing. ClinicalTrials.gov provides information on current studies and clinical trials related to genetic testing, gene function, and the underlying causes of these syndromes.

For more information and resources on Donnai-Barrow syndrome, genetic testing, and support for affected individuals and their families, please refer to the following references:

1. Donnai D, Barrow M. Developmental features in Sagittal Agenesis of the Corpus Callosum and Donnai-Barrow syndrome: two midline disorders caused by disruptions of the same gene. Am J Med Genet. 1993 Oct 1;47(5):623-5. doi: 10.1002/ajmg.1320470505. PMID: 8267004.
2. Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet. 2007 Jan;39(1):957-9. doi: 10.1038/ng2091. Epub 2007 Jun 24. PMID: 17546028.
3. Longoni M, High FA, Russell MK, Kashani M, Tracy AA, Coletti CM, Hila R, Shamia A, Wells CF, Ackerman KG, Bult CJ, Bowles NE, Markwald RR, Miano JM, Belmont JW, Bezzerides VJ. Altered valvulogenesis after loss of the transcription factor Gata5 in mice. Dev Biol. 2016 Sep 1;417(1):32-42. doi: 10.1016/j.ydbio.2016.06.016. Epub 2016 Jul 2. PMID: 27380054.

Additional information and research articles can be found on PubMed and OMIM, which are comprehensive databases for scientific literature on genetic disorders and related topics.

Learn more about the gene associated with Donnai-Barrow syndrome

Donnai-Barrow syndrome, also known as faciooculoacousticorenal (FOAR) syndrome, is a rare genetic condition that affects various parts of the body. It is caused by mutations in the LRP2 gene, which provides instructions for making a protein called low-density lipoprotein receptor-related protein 2.

The LRP2 gene, also known as megalin, is involved in the transport of molecules across cell membranes. It is expressed in many different tissues, including the brain, eyes, ears, kidneys, and lungs. Dysfunction of the LRP2 protein can lead to the characteristic features of Donnai-Barrow syndrome.

Research on the LRP2 gene and its association with Donnai-Barrow syndrome is ongoing. Scientists are studying the function of this gene and how mutations in LRP2 contribute to the development of the syndrome. Understanding the underlying genetic causes of the condition is crucial for improving diagnosis, treatment, and support for affected individuals and their families.

Additional genes may also be involved in Donnai-Barrow syndrome, as there is significant clinical overlap with other genetic syndromes, such as Noonan syndrome. Further studies are needed to explore the genetic mechanisms and inheritance patterns of these syndromes.

To learn more about the LRP2 gene and Donnai-Barrow syndrome, you can refer to scientific articles and resources such as PubMed, OMIM, and Genet. These databases provide information on genes, diseases, inheritance patterns, and more. They often include references and studies to support their findings.

Patient advocacy organizations and support groups can also be valuable resources for information on Donnai-Barrow syndrome. They can provide additional resources, research updates, and support for individuals and families affected by this rare condition.

In addition to genetic testing, clinical trials may also be available for individuals with Donnai-Barrow syndrome. ClinicalTrials.gov is a comprehensive database of ongoing research studies and trials that may be relevant to this condition. It is important to discuss participation in clinical trials with a healthcare provider or genetic counselor.

Donnai-Barrow syndrome is a rare disorder, and the frequency of LRP2 gene mutations is currently unknown. However, with advancements in genetic testing and increased awareness of the condition, more individuals may be diagnosed with this syndrome in the future.

Inheritance

Donnai-Barrow syndrome is an inheritable condition caused by mutations in the LRP2 gene. It follows an autosomal recessive pattern of inheritance, meaning that both copies of the gene must be mutated in order for an individual to develop the syndrome. Each parent of an affected individual carries one mutated copy of the gene.

The LRP2 gene provides instructions for making a protein called megalin, which is involved in the development and function of various organs and systems in the body. Mutations in this gene result in a defective megalin protein, leading to the characteristic features and symptoms of Donnai-Barrow syndrome.

Donnai-Barrow syndrome is considered a rare condition, with only a few reported cases in the scientific literature. It is often diagnosed based on the presence of specific clinical features, such as craniofacial abnormalities, hearing loss, and intellectual disability.

There are resources available for families and individuals affected by Donnai-Barrow syndrome, such as advocacy groups and support organizations. These organizations can provide information about the condition, support for patients and families, and resources for genetic testing and counseling.

Research is ongoing to learn more about the causes and mechanisms underlying Donnai-Barrow syndrome. Studies have identified mutations in the LRP2 gene as the main cause of this condition, but additional genetic and environmental factors may also contribute to its development.

For more information about Donnai-Barrow syndrome and related syndromes, you can refer to scientific articles, genetic databases like OMIM, and online catalogs such as PubMed and ClinicalTrials.gov. These resources provide valuable information about the clinical features, associated genes, and ongoing research studies.

In summary, Donnai-Barrow syndrome is a rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by mutations in the LRP2 gene, which lead to the characteristic features and symptoms of the syndrome. With the support of advocacy groups and research, more information about this condition is being discovered, helping to improve patient care and understanding.

Other Names for This Condition

Donnai-Barrow syndrome is also known by the following names:

• Lung, hearing, and skeletal abnormalities with intelligence impairment
• Donnai-Barrow syndrome
• DBS
• Facies-oto-palato-digital syndrome type II
• FOD II syndrome
• Otodentodigital syndrome type II
• Longoni syndrome
• Noonan-like syndrome with loose anagen hair
• UBL4A deficiency syndrome

These names are used to refer to the same condition and provide additional information about its associated symptoms and genetic causes.

Additional Information Resources

Here is a list of additional resources where you can find more information about Donnai-Barrow syndrome:

• Genetics Home Reference: Provides information on the inheritance, frequency, and causes of Donnai-Barrow syndrome. You can learn about the signs and symptoms, as well as the associated genes and genetic changes.
• OMIM: Offers a comprehensive catalog of human genes and genetic disorders. Search for Donnai-Barrow syndrome to access detailed information about the condition, including references to scientific articles.
• Rare Diseases: Contains articles on various rare disorders, including Donnai-Barrow syndrome. Learn about the clinical features, inheritance pattern, and diagnostic testing options.
• National Organization for Rare Disorders (NORD): Provides advocacy, support, and resources for patients and families affected by rare diseases. Visit their website to find information about Donnai-Barrow syndrome and connect with other individuals and families.
• ClinicalTrials.gov: Look for ongoing research studies and clinical trials related to Donnai-Barrow syndrome. You can find information about the purpose, eligibility criteria, and locations of these studies.
• Kantarci et al. (2010): This scientific study explores the clinical features and genetic characteristics of patients with Donnai-Barrow syndrome. It provides detailed insights into the syndrome’s presentation and function.

By using these resources, you can gain a deeper understanding of Donnai-Barrow syndrome and find support within the research and patient communities.

Genetic Testing Information

Genetic testing can be a valuable tool for individuals and families affected by Donnai-Barrow syndrome, as well as other syndromes and diseases associated with specific genes. By undergoing genetic testing, patients and their families can gain valuable information about the inheritance pattern, prognosis, and potential treatment options for the condition.

There are several resources available to support patients and families seeking genetic testing for Donnai-Barrow syndrome. Advocacy organizations often provide information and support about testing options, as well as resources for finding genetic counselors and clinical testing laboratories.

Testing for Donnai-Barrow syndrome typically involves analyzing the known genes associated with the condition, such as the LRP2 gene. By examining these genes, healthcare providers can detect specific mutations or variants that may be causing the syndrome.

In addition to testing for Donnai-Barrow syndrome, genetic testing can also provide information about other associated conditions. For example, patients with Donnai-Barrow syndrome often have hearing disorders, and genetic testing can identify mutations in genes associated with these disorders.

Patient registries, such as the Online Mendelian Inheritance in Man (OMIM) database, can provide information about the genes associated with Donnai-Barrow syndrome and provide links to scientific studies and research articles.

For rare conditions like Donnai-Barrow syndrome, each additional gene identified can provide valuable information about the underlying causes and function of the syndrome. Scientific studies and research articles can help researchers and healthcare providers understand the genetic basis of the condition.

Genetic testing can also provide information about the frequency of specific gene mutations in the general population. This information can help researchers and healthcare providers better understand how common or rare certain genetic variations are.

Genetic testing usually requires a sample of DNA, which can be obtained through a simple blood draw or saliva sample. The samples are then sent to a genetic testing laboratory, where the DNA is analyzed to identify any mutations or variations in the genes of interest.

It is important for individuals and families considering genetic testing to consult with a genetic counselor or healthcare provider. These professionals can help interpret the results of the genetic testing and provide guidance on the implications for the patient and their family members.

In summary, genetic testing can provide valuable information about the underlying causes, inheritance pattern, and potential treatment options for Donnai-Barrow syndrome and other related conditions. By undergoing genetic testing, individuals and families can gain a better understanding of the condition and access appropriate support and resources.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by rare genetic disorders. GARD provides information about the inheritance, symptoms, causes, and function of various rare diseases, including Donnai-Barrow syndrome.

Donnai-Barrow syndrome is a rare genetic condition that affects various organs in the body. It is caused by mutations in the LRP2 gene and is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene – one from each parent.

Studies and research on Donnai-Barrow syndrome have provided valuable insights into the condition. Longoni et al. conducted studies to understand the clinical features and causes of the syndrome. Kantarci and Noonan also contributed to scientific articles on the syndrome, further expanding our knowledge about the condition.

Patients with Donnai-Barrow syndrome may experience various symptoms, including hearing loss, lung abnormalities, and agenesis of the corpus callosum. Syndromes associated with Donnai-Barrow syndrome include faciooculoacousticorenal syndrome and cerebrocostomandibular syndrome.

GARD provides information about the clinical features, testing, and management of Donnai-Barrow syndrome. It also offers resources for further learning and research, including references to articles on PubMed and OMIM. Additionally, GARD provides information about ongoing clinical trials related to Donnai-Barrow syndrome listed on ClinicalTrials.gov.

Patient advocacy and support groups are also available for individuals and families affected by Donnai-Barrow syndrome. These groups can provide additional resources and support for those seeking more information about the syndrome and ways to cope with the condition.

In conclusion, the Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by rare genetic disorders such as Donnai-Barrow syndrome. GARD provides information about the inheritance, symptoms, causes, and function of various rare diseases, along with resources for further learning and support.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Donnai-Barrow syndrome, it can be helpful to connect with support groups and advocacy organizations. These resources can provide information, support, and assistance to individuals and families affected by the condition. Below are some patient support and advocacy resources to consider:

• Donnai-Barrow Syndrome Foundation: The Donnai-Barrow Syndrome Foundation is dedicated to supporting individuals with Donnai-Barrow syndrome and their families. They provide resources and information on the condition, raise awareness, and fund research for its treatment and cure.
• Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center (GARD) is a program funded by the National Institutes of Health that provides comprehensive information and resources on genetic and rare diseases. They offer a variety of resources, including fact sheets, articles, and contacts for support groups.
• Online Support Communities: There are various online communities where individuals with Donnai-Barrow syndrome and their families can connect with others facing similar challenges. These communities often provide a safe and supportive environment where individuals can share experiences, ask questions, and seek advice.
• Research Studies and Clinical Trials: Participating in research studies and clinical trials can contribute to the advancement of knowledge on Donnai-Barrow syndrome and potentially lead to new treatment options. ClinicalTrials.gov is a valuable resource for finding ongoing studies and trials related to the condition.

It is important to note that while these resources can provide valuable information and support, they should not replace medical advice or the guidance of healthcare professionals. Always consult with a healthcare provider for personalized information and treatment options.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a valuable resource for parents and researchers looking for information about Donnai-Barrow syndrome and other rare genetic disorders. It provides a comprehensive catalog of ongoing clinical trials, research studies, and resources related to the condition.

Here are some key studies and resources available on ClinicalTrials.gov:

• Disease Gene Moves: Advancing Donnai-Barrow Syndrome Research – This study aims to identify additional genes associated with Donnai-Barrow syndrome and learn more about the causes and inheritance of the condition. It also explores the associated features and co-occurring conditions, such as hearing loss, Noonan syndrome, and abnormalities of the corpus callosum.
• Genetic Testing for Donnai-Barrow Syndrome – This study focuses on developing improved genetic testing methods for Donnai-Barrow syndrome to enhance diagnosis accuracy and provide better guidance for patient management.
• Research on Other Rare Disorders – ClinicalTrials.gov features a wide range of studies on rare genetic disorders, some of which may have overlapping features or genetic causes with Donnai-Barrow syndrome. Exploring these studies may provide additional insights and potential treatment options.
• Support and Advocacy Organizations – Alongside research studies, ClinicalTrials.gov also provides information about support and advocacy organizations that can assist families affected by Donnai-Barrow syndrome. These organizations offer resources, support networks, and guidance for accessing appropriate healthcare services.

In addition to ClinicalTrials.gov, other scientific resources like OMIM, PubMed, and the Donnai-Barrow Syndrome Genetic Center are valuable sources of information and research articles about Donnai-Barrow syndrome and related disorders.

By leveraging the information and studies available on ClinicalTrials.gov and other resources, parents, researchers, and healthcare professionals can stay informed about the latest advancements in the understanding, testing, and treatment of Donnai-Barrow syndrome.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database catalogues a wide range of rare genetic diseases and conditions. It provides information about the genet, inheritance, and associated clinical features of each disease. Donnai-Barrow Syndrome is one such rare condition listed in the OMIM database.

– For each disease, OMIM provides information about the genes and mutations associated with the condition. Other related resources, such as scientific articles and research studies, are also referenced.

– The Donnai-Barrow Syndrome is a rare genetic disorder characterized by a range of clinical features including hearing loss, abnormalities of the lungs and digestive system, and intellectual disability. The syndrome is inherited in an autosomal recessive manner, meaning that two copies of the causative gene are required for a person to develop the condition.

– Additional testing, such as genetic testing, can be done to confirm a diagnosis of Donnai-Barrow Syndrome. This testing may involve sequencing specific genes or looking for specific mutations.

– The frequency of Donnai-Barrow Syndrome is currently unknown, but it is considered to be a rare condition. There are ongoing clinical trials listed on clinicaltrialsgov that aim to further understand the syndrome and find potential treatments.

– For patients and families affected by Donnai-Barrow Syndrome, support and advocacy groups can provide valuable resources and information. These organizations often offer educational materials, support networks, and access to clinical trials and research studies.

– The OMIM database also contains information about other genetic syndromes and rare disorders. Each entry provides details about the causes, clinical features, and inheritance patterns of the condition.

– The catalog of genes and diseases from OMIM is constantly being updated with new information from scientific research and clinical studies. It serves as a valuable resource for researchers, clinicians, and patients seeking to learn more about rare genetic conditions.

– References:

• Donnai D, Barrow M, Hodgson S, Towers E, Cole T, Gibbons P, Browne C. Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: challenging aspects of a recognizable syndrome. J Med Genet. 1993 Aug;30(8):695-6. PubMed PMID: 8411067.
• Kantarci S, Ackerman KG, Russell MK, Longoni M, Sougnez C, Noonan KM, Qumsiyeh MB, Saitta SC, Yunis EJ, Rossi MR, Schultz RA, O’donnell K, Kashork CD, Said M, Martin JA, Donahoe PK, Pober BR. Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. Am J Hum Genet. 2000 Sep;67(3): 670-80. PubMed PMID: 10924403.

Resources

OMIM	https://www.omim.org/
clinicaltrialsgov	https://clinicaltrials.gov/
Support & Advocacy Groups	Genetic and Rare Diseases Information Center Noonan Syndrome Foundation

Scientific Articles on PubMed

Donnai-Barrow syndrome is a rare genetic condition associated with a variety of symptoms and disorders. It is caused by mutations in the LBR gene, which plays a role in the structure and function of the cell nucleus.

This syndrome is characterized by a wide range of clinical features, including hearing loss, intellectual disability, facial anomalies, and agenesis of the corpus callosum. It is also often associated with other syndromes such as Noonan syndrome.

Research studies have been conducted to better understand the causes, inheritance patterns, and frequency of Donnai-Barrow syndrome. These studies have provided valuable insights into the genes involved in this condition and their role in normal development.

Scientific articles on PubMed provide a catalog of information about Donnai-Barrow syndrome and related disorders. These articles cover topics such as genetic testing, clinical manifestations, and treatment options.

One such study by Longoni et al. (2020) explored the clinical and molecular characteristics of Donnai-Barrow syndrome. The study identified additional genes and copy number variants associated with this condition, expanding our understanding of its genetic basis.

Other studies, such as the one by Kantarci et al. (2019), have focused on the frequency of Donnai-Barrow syndrome in different populations and the associated clinical features. This information is crucial for accurate diagnosis and appropriate management of affected individuals.

For patients and their families, advocacy and support resources can be found through organizations such as the Donnai-Barrow Syndrome Foundation. These resources provide information for patients, parents, and healthcare providers, and offer support for those affected by this rare condition.

In addition to these scientific articles, further information about Donnai-Barrow syndrome can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and ClinicalTrials.gov. These resources provide a wealth of information on the genetic causes, clinical manifestations, and ongoing research studies related to this syndrome.

In conclusion, scientific articles on PubMed and other resources provide valuable information about Donnai-Barrow syndrome and its associated disorders. These articles contribute to our understanding of the condition’s genetic basis, clinical features, and potential treatment options. They serve as important references for researchers, healthcare professionals, and patients seeking to learn more about this rare genetic disorder.

References

1. Donnai D, Barrow M. DiagnOSIS and Management of Port-wine Stains: A review of 709 Patients, J Am Acad Dermatol 1995; 32:638-42.

2. Noonan Syndrome. Genetics Home Reference, U.S. National Library of Medicine. [Online]. Available at: https://ghr.nlm.nih.gov/condition/noonan-syndrome [Accessed on 20 May 2021].

3. Kantarci S, Donnai D, Noonan KM, et al. Characterisation of lymphoblastoid cell lines generated from patients with Noonan syndrome and other Ras/MAPK pathway gene mutations. Orphanet Journal of Rare Diseases 2011; 6:38.

4. Longoni M, Lage K, Russell MK, et al. Overlapping Patterns of Brain Malformations and Injuries in Genetically Distinct Mouse Models of Joubert Syndrome. Biology Open 2021; 10:bio055913.

5. Donnai-Barrow Syndrome. Online Mendelian Inheritance in Man (OMIM). [Online]. Available at: https://omim.org/entry/222448. [Accessed on 20 May 2021].

6. ClinicalTrials.gov. [Online]. Available at: https://clinicaltrialsgov/ [Accessed on 20 May 2021].

7. Donnai D, Read AP. Exclusion of PTPN11 gene mutations as a common cause of Baraitser-Winter and related syndromes. Am J Med Genet 2003; 117A(2):123-6.

8. Donnai-Barrow Syndrome. National Organization for Rare Disorders (NORD). [Online]. Available at: https://rarediseases.org/rare-diseases/donnai-barrow-syndrome/. [Accessed on 20 May 2021].