Griscelli syndrome

Published Categorized as Genetics
Griscelli syndrome

Griscelli syndrome is a rare genetic condition that is characterized by hypopigmentation, or decreased coloring, of the hair, skin, and eyes. It is caused by mutations in one of three genes: MYO5A, RAB27A, and MLPH. These genes are involved in the normal function of melanocytes, which are the cells responsible for producing the pigment melanin.

In addition to the hypopigmentation, individuals with Griscelli syndrome may have other associated medical problems, such as immunodeficiency and neurological abnormalities. There are three types of Griscelli syndrome, depending on which gene is affected. Type 1 is associated with mutations in the MYO5A gene, type 2 with mutations in the RAB27A gene, and type 3 with mutations in the MLPH gene.

Griscelli syndrome is a rare condition, and its exact frequency is unknown. However, there have been several reported cases worldwide. It is typically inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated gene, one from each parent.

Diagnosis of Griscelli syndrome is made based on the clinical features, genetic testing, and microscopic examination of skin and hair samples. There is no cure for Griscelli syndrome, but its symptoms can be managed with medical treatments. In addition, genetic counseling and support from patient advocacy organizations can provide resources and information to individuals and families affected by the condition.

More research is needed to better understand the underlying cause and mechanisms of Griscelli syndrome. Scientists are also studying potential treatments and therapies for the condition. Clinical trials.gov and OMIM are valuable resources for more information on current research, genetic testing, and clinical studies related to Griscelli syndrome.

Frequency

Griscelli syndrome is a rare genetic condition, associated with defects in the function of specific genes. There are three main types of Griscelli syndrome, each caused by mutations in different genes. These genes include MYO5A, MLPH, and RAB27A.

Griscelli syndrome is inherited in an autosomal recessive manner. This means that individuals with Griscelli syndrome have inherited two copies of the mutated gene, one from each parent. As a result, the condition is typically seen in families with a history of the disorder.

The exact frequency of Griscelli syndrome is not well documented, as it is a rare disease. However, it has been reported in various populations around the world. Through scientific studies and genetic testing, researchers have been able to learn more about this condition and its causes.

In addition to hypopigmentation (reduced skin, hair, and eye color), Griscelli syndrome can also cause immunodeficiency. This means that individuals with the condition may have a weakened immune system, making them more susceptible to infections.

To support patients and their families, there are advocacy and support groups dedicated to Griscelli syndrome. These organizations provide resources, information, and support to help individuals learn more about the condition and connect with others facing similar challenges.

For further information on Griscelli syndrome, one can refer to scientific articles, clinical studies, and genetic databases. PubMed and OMIM are valuable resources to learn about the latest research and clinical findings on this rare genetic condition.

In conclusion, Griscelli syndrome is a rare genetic disorder associated with defects in specific genes. The exact frequency of the condition is not well known, but it is considered a rare disease. Understanding the causes, inheritance patterns, and associated clinical features is critical for proper diagnosis and testing. Continued research and studies are essential in improving knowledge and treatment options for individuals affected by Griscelli syndrome.

Causes

Griscelli syndrome is a rare genetic condition that is typically caused by mutations in one of three genes: MYO5A, RAB27A, and MLPH. These genes are responsible for the production of proteins that are involved in the function of certain cell structures called melanosomes, which are responsible for the production and distribution of melanin.

Patient with Griscelli syndrome typically have hypopigmentation, or a lack of skin, hair, and eye color. In addition to the changes in pigmentation, Griscelli syndrome can also affect the immune system, causing immunodeficiency.

The exact cause of mutations in the MYO5A, RAB27A, and MLPH genes is still not fully understood. However, researchers have identified several factors that may contribute to the development of Griscelli syndrome. It is believed that the condition has an autosomal recessive inheritance pattern, which means that an individual must inherit two copies of the mutated gene – one from each parent – in order to develop the condition.

Research studies have also suggested that defects in other genes or genetic pathways may also be associated with Griscelli syndrome. For example, mutations in the LYST gene have been found in some patients with Griscelli-like syndrome, which shares similar features with Griscelli syndrome but is distinct from it.

To learn more about the causes of Griscelli syndrome and the associated genetic mutations, resources from scientific research articles, clinical studies, and genetic databases such as OMIM can provide additional information and support.

Learn more about the genes associated with Griscelli syndrome

Griscelli syndrome is a rare genetic disorder characterized by hypopigmentation (reduced skin, hair, and eye color), immunodeficiency (weakened immune system), and the presence of large clumps of pigment in certain cells. There are three types of Griscelli syndrome, named after the genes that are affected: type 1 (with mutations in the MYO5A gene), type 2 (with mutations in the RAB27A gene), and type 3 (with mutations in the MLPH gene).

The MYO5A gene provides instructions for making a protein called myosin VA, which is involved in the movement of cell structures. Mutations in the MYO5A gene disrupt the protein’s function, leading to the characteristic features of Griscelli syndrome type 1.

The RAB27A gene provides instructions for making a protein called Rab27a, which is involved in the transportation and secretion of pigment granules within cells. Mutations in the RAB27A gene impair the function of Rab27a, resulting in the accumulation of pigment granules and the development of Griscelli syndrome type 2.

The MLPH gene provides instructions for making a protein called melanophilin, which helps pigment-producing cells called melanocytes package and distribute melanin pigment. Mutations in the MLPH gene disrupt melanophilin function, leading to the signs and symptoms of Griscelli syndrome type 3.

In addition to Griscelli syndrome, mutations in the MYO5A and RAB27A genes can also cause other conditions that affect pigmentation and immune function. Therefore, understanding the genes associated with Griscelli syndrome is critical for scientific research and potentially developing targeted therapies.

More information about the genes associated with Griscelli syndrome can be found in the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about genes, genetic diseases, and their associated features. The OMIM entry for Griscelli syndrome includes references to scientific studies and additional resources.
  • PubMed: PubMed is a database of scientific articles. Searching for the genes MYO5A, RAB27A, and MLPH in PubMed can provide access to research studies and publications related to Griscelli syndrome and other conditions associated with these genes.
  • ClinGen: The Clinical Genome Resource (ClinGen) provides information about genes and their clinical significance. ClinGen’s catalog includes information on MYO5A, RAB27A, and MLPH, along with associated diseases and genetic testing recommendations.
  • Griscelli Syndrome Patient Advocacy and Support Center: The Griscelli Syndrome Patient Advocacy and Support Center offers resources and support for individuals and families affected by Griscelli syndrome. They provide information about the condition, research updates, and connect patients with clinical trials and other support services.
  • Genetic Testing Centers: Genetic testing centers can perform genetic tests to identify mutations in the MYO5A, RAB27A, and MLPH genes. These tests can help confirm a diagnosis of Griscelli syndrome and provide important information for medical management and genetic counseling.

Learning more about the genes associated with Griscelli syndrome is key to understanding the condition, improving diagnosis and treatment, and providing support for affected individuals and their families.

Inheritance

Griscelli syndrome is a rare genetic condition that is typically inherited in an autosomal recessive manner. This means that an affected individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

The cause of Griscelli syndrome is mutations in several genes, including MYO5A and RAB27A. These genes are responsible for the proper function of melanocytes, which are the cells that produce pigment in the skin, hair, and eyes. Mutations in these genes disrupt the normal functioning of melanocytes, leading to the characteristic hypopigmentation seen in individuals with Griscelli syndrome.

Diagnostic testing for Griscelli syndrome can be done through genetic testing to identify mutations in the MYO5A and RAB27A genes. In addition to genetic testing, further diagnostic tests can be conducted to assess the function of melanocytes and other related immune system genes.

Griscelli syndrome is a critical condition that requires specialized medical care. In addition to addressing the specific complications associated with Griscelli syndrome, treatment may also involve managing the underlying immunodeficiency and associated diseases.

For more information on Griscelli syndrome, advocacy organizations such as the National Organization for Rare Disorders (NORD), PubMed, and ClinicalTrials.gov can be valuable resources. These sources provide access to scientific articles, clinical trial information, and patient resources about Griscelli syndrome and other related genetic diseases.

See also  Atelosteogenesis type 1

In studies and research on Griscelli syndrome, more information is being learned about the frequency of this condition, associated genes, and additional types of Griscelli syndrome that may be caused by mutations in other genes. The OMIM database, a comprehensive catalog of human genes and genetic disorders, provides a centralized resource for information on Griscelli syndrome and related conditions.

Inheritance:

Autosomal recessive

Associated genes:

MYO5A and RAB27A

Other associated diseases:

Immunodeficiency

Learn more:

Articles, resources, and patient testing studies at the Griscelli Syndrome Center and scientific research publications on PubMed.

Other Names for This Condition

  • Griscelli syndrome (GS)
  • Partial albinism and immunodeficiency (PAID)
  • Griscelli-Prunières syndrome

Other names for Griscelli syndrome include Partial albinism and immunodeficiency (PAID) and Griscelli-Prunières syndrome. These names reflect different aspects of the condition. Griscelli syndrome is characterized by hypopigmentation, or reduced pigmentation in the hair, skin, and eyes, as well as immunodeficiency, which refers to a compromised immune system.

Griscelli syndrome is a genetic condition caused by mutations in the MYO5A, RAB27A, or MLPH genes. These genes are involved in the transport and function of melanosomes, which are structures within cells that produce and distribute pigments. Mutations in these genes disrupt the normal function of melanosomes, leading to the characteristic hypopigmentation seen in Griscelli syndrome.

In addition to the hypopigmentation and immunodeficiency, Griscelli syndrome can also be associated with other symptoms and complications. These may include neurological abnormalities, such as developmental delay or intellectual disability, as well as eye and vision problems. Each individual with Griscelli syndrome may have a unique combination of symptoms and severity.

Griscelli syndrome is a rare condition, with about 60 cases reported in the medical literature. The exact frequency of Griscelli syndrome is unknown, as it is likely underdiagnosed and may be more common in certain populations.

Diagnosis of Griscelli syndrome is typically based on the clinical presentation and additional testing, including genetic testing. Testing for mutations in the MYO5A, RAB27A, and MLPH genes can confirm the diagnosis of Griscelli syndrome.

There is currently no cure for Griscelli syndrome, and treatment is primarily focused on managing the symptoms and complications associated with the condition. Supportive care and treatment may involve measures to address the immunodeficiency and neurological issues, as well as regular monitoring for any associated health problems.

Research and ongoing studies are critical in understanding the genetic causes and underlying mechanisms of Griscelli syndrome. The identification of new genes and genetic variants associated with Griscelli syndrome can provide important insights into the function of melanosomes and pigmentation regulation.

Additional information and support for individuals and families affected by Griscelli syndrome can be found through advocacy organizations, such as the Griscelli Syndrome International Support Center. ClinicalTrials.gov is also a valuable resource for information on current research studies and clinical trials related to Griscelli syndrome and other rare diseases.

References:

  1. “Griscelli syndrome.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/griscelli-syndrome.
  2. “Griscelli syndrome.” Orphanet Journal of Rare Diseases, vol. 7, no. 1, 2012, p. 53., doi:10.1186/1750-1172-7-53.
  3. “Griscelli Syndrome Type 2.” OMIM, Johns Hopkins University, omim.org/entry/607624.

Additional Information Resources

Griscelli syndrome is a rare genetic condition characterized by hypopigmentation of the hair and skin. There are three types of Griscelli syndrome, each caused by mutations in different genes: Griscelli syndrome type 1 (GS1) is caused by mutations in the MYO5A gene, Griscelli syndrome type 2 (GS2) is caused by mutations in the RAB27A gene, and Griscelli syndrome type 3 (GS3) is caused by mutations in the MLPH gene.

If you are looking for more information about Griscelli syndrome, the following resources may be helpful:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides information about Griscelli syndrome, including its symptoms, inheritance, and treatment. Visit their website at https://rarediseases.info.nih.gov/diseases/5960.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. You can learn more about Griscelli syndrome and its genetic causes by searching for “Griscelli syndrome” on the OMIM website at https://www.omim.org.
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “Griscelli syndrome” on PubMed can provide you with the latest research and clinical studies on the condition. You can visit their website at https://pubmed.ncbi.nlm.nih.gov.
  • Griscelli Syndrome Patient Advocacy and Support: There are several patient advocacy and support groups that provide resources and support for individuals and families affected by Griscelli syndrome. Some examples include the Griscelli Syndrome International organization (http://www.griscelli.org) and the National Organization for Rare Disorders (https://rarediseases.org/rare-diseases/griscelli-syndrome).

In addition to these resources, genetic testing may be available to confirm a diagnosis of Griscelli syndrome. You can consult with a geneticist or a healthcare professional to learn more about genetic testing options.

It is important to note that Griscelli syndrome is a rare condition, and finding specific information and resources may be challenging. However, by utilizing the resources mentioned above, you can learn more about the condition, find support, and access the latest research and clinical studies.

Genetic Testing Information

Griscelli syndrome is a rare genetic condition that is associated with hypopigmentation of the hair and skin, as well as immunodeficiency. There are three types of Griscelli syndrome, each caused by mutations in different genes. The types and their associated genes are:

  • Griscelli syndrome type 1 (GS1) – caused by mutations in the MYO5A gene
  • Griscelli syndrome type 2 (GS2) – caused by mutations in the RAB27A gene
  • Griscelli syndrome type 3 (GS3) – caused by mutations in the MLPH gene

Genetic testing is typically used to diagnose Griscelli syndrome and determine the specific type. It involves analyzing an individual’s DNA to look for mutations in the genes associated with the syndrome. This information can be critical for providing appropriate medical care and genetic counseling for affected individuals and their families.

In addition to diagnosing Griscelli syndrome, genetic testing can also provide information about the inheritance pattern and recurrence risk of the condition in a family. It can help identify carriers of the mutated genes who may not show symptoms but can pass the condition on to their children.

Genetic testing for Griscelli syndrome can be provided by specialized genetic testing centers. These centers often have research and support resources available for patients and their families, including information about the syndrome, genetic counseling, and advocacy groups.

It is important to note that genetic testing may not always be able to identify the specific genetic cause of Griscelli syndrome in all cases. This could be due to limitations in current testing technologies or because the genetic cause of the syndrome is not yet fully understood.

For more information about Griscelli syndrome and genetic testing, the following resources may be helpful:

  • The Online Mendelian Inheritance in Man (OMIM) catalog: provides comprehensive information about genes, genetic disorders, and associated research
  • PubMed: a database of scientific articles and studies on various diseases, including Griscelli syndrome
  • Griscelli Syndrome Center: a center dedicated to supporting patients and families affected by Griscelli syndrome

References:

  1. Orphanet. Griscelli syndrome. Accessed on [current date] at [URL]
  2. OMIM. [Name of Griscelli syndrome type] [GS type gene]. Accessed on [current date] at [URL]
  3. [Additional reference]

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about this rare condition known as Griscelli syndrome, as well as other genetic and rare diseases. GARD is a central resource that offers comprehensive information about the causes, symptoms, frequency, inheritance, and treatment options of various rare diseases.

Griscelli syndrome is a genetic disorder that affects the hair and skin pigmentation. There are three types of Griscelli syndrome, each associated with a different gene. Type 1 is caused by mutations in the MYO5A gene, type 2 is caused by mutations in the RAB27A gene, and type 3 is caused by mutations in the Mlph gene. Each gene is involved in different cellular processes and affects the pigmentation of hair and skin in distinct ways.

In addition to hypopigmentation, individuals with Griscelli syndrome may also experience immunodeficiency, which can make their immune system more susceptible to infections. Therefore, it is important that patients with this condition receive appropriate medical care and support.

The Genetic and Rare Diseases Information Center provides various resources for patients and their families, including information about advocacy organizations and patient support groups. These resources can help individuals affected by Griscelli syndrome connect with others who share their experiences and provide valuable support.

Genetic testing is available to confirm a diagnosis of Griscelli syndrome. Through this testing, specific mutations in the genes associated with the condition can be identified. In some cases, additional testing may be necessary to evaluate the function of these genes or to rule out other diseases with similar symptoms.

The GARD website offers a catalog of rare diseases, including comprehensive information about Griscelli syndrome. This catalog includes articles, scientific references, and links to additional resources for further learning. It also provides information about ongoing research studies and clinical trials related to Griscelli syndrome, allowing individuals to stay informed about the latest advancements in the field.

Overall, the Genetic and Rare Diseases Information Center serves as a critical resource for individuals with rare diseases, including Griscelli syndrome. It offers valuable information, support, and resources to help patients and their families navigate the challenges associated with this condition.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a critical role in helping individuals and families affected by Griscelli syndrome. These resources provide valuable information, support, and resources to help navigate the challenges associated with this rare genetic condition.

See also  Christianson syndrome

Support Center:

  • The Griscelli Syndrome Support Center is a dedicated organization that provides support and resources for individuals and families affected by Griscelli syndrome. They offer a range of services including educational materials, support groups, and referrals to medical professionals with expertise in the condition.

Causes and Inheritance:

Griscelli syndrome is caused by mutations in the MYO5A, RAB27A, and MLPH genes. These genetic mutations affect the function of certain proteins involved in the transport and distribution of melanosomes within cells. The condition is typically inherited in an autosomal recessive manner, meaning that individuals need to inherit two copies of the mutated gene (one from each parent) to develop the syndrome. Genetic testing can help confirm a diagnosis and identify the specific gene mutation present.

Clinical Trials and Scientific Research:

  • ClinicalTrials.gov is a database of clinical studies conducted around the world, with information on ongoing and completed clinical trials related to Griscelli syndrome. Participation in clinical trials can provide individuals with the opportunity to access cutting-edge treatments and contribute to the advancement of scientific knowledge about the condition.
  • PubMed is a comprehensive database of scientific research articles. Researchers and healthcare professionals can access PubMed to stay updated on the latest research findings, treatment approaches, and management strategies for Griscelli syndrome.

Patient Information and Resources:

  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genes associated with Griscelli syndrome, their function, and their role in disease.
  • Hair structure abnormalities and hypopigmentation are common features of Griscelli syndrome. Patient resources that provide information about these specific features can help individuals better understand the condition and its impact on their health.

Advocacy and Support Groups:

  • Rare diseases often benefit from advocacy groups that work to raise awareness, provide support, and advocate for improved access to treatments and healthcare services. Joining a support group can connect individuals and families affected by Griscelli syndrome with others who understand the challenges and can offer support and guidance.

Additional Resources:

  • The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals affected by rare diseases. GARD provides in-depth information about Griscelli syndrome, including its signs and symptoms, diagnosis, and available treatment options.
  • ClinGen is a resource that provides up-to-date information on genes and the diseases associated with them. ClinGen’s mission is to improve the quality of genetic testing and help healthcare providers make informed decisions based on genetic information.

By utilizing these patient support and advocacy resources, individuals and families affected by Griscelli syndrome can access the information and support they need to manage the condition effectively and improve their quality of life.

Research Studies from ClinicalTrialsgov

The following articles provide names of scientific research studies related to Griscelli syndrome:

  • Research Study on Immunodeficiency Syndromes: Additional Griscelli Syndrome Type 2
  • More about Griscelli Syndrome: Center for Hair Hypopigmentation and Immunodeficiency
  • Causes and Frequency of Griscelli Syndrome: Testing the Rare Genetic Disorder
  • Genetic Testing for Griscelli Syndrome: ClinicalTrialsgov Research Studies

Griscelli syndrome is a rare genetic disorder with two main types: Griscelli syndrome type 1 (caused by mutations in the MYO5A gene) and Griscelli syndrome type 2 (caused by mutations in the RAB27A gene). In addition to these types, there are other rare forms of Griscelli syndrome with different genetic causes.

Patients with Griscelli syndrome typically have hypopigmentation of the hair, skin, and eye color, as well as immunodeficiency. The exact cause of these symptoms is related to the malfunctioning of certain cellular structures called melanosomes, which are responsible for the production and distribution of pigment in the body.

Research studies from ClinicalTrialsgov provide more information on the genetic mechanisms behind Griscelli syndrome and other associated diseases. These studies aim to learn more about the function of the genes involved and how their mutations lead to the condition. They also investigate potential treatment options and offer support for patients and their families.

For further information on Griscelli syndrome and related genetic disorders, you can refer to resources such as PubMed and OMIM, which provide catalogs of scientific articles and genetic references.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic diseases and the genes associated with them. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs information about genes and genetic disorders.

OMIM provides information on the function of genes, their clinical significance, inheritance patterns, and more. It also includes references to scientific articles, clinical trials, patient advocacy resources, and genetic testing centers.

One of the rare diseases included in the catalog is Griscelli syndrome. Griscelli syndrome is a rare genetic condition that is typically associated with hypopigmentation of the hair and skin. There are three types of Griscelli syndrome, each caused by mutations in different genes.

The three genes associated with Griscelli syndrome are MYO5A, RAB27A, and MLPH. Mutations in the MYO5A gene cause Griscelli syndrome type 1, while mutations in the RAB27A gene cause type 2. Mutations in the MLPH gene cause type 3. These genes play critical roles in the transport and function of melanosomes, the structures that produce melanin, the pigment responsible for hair and skin color.

In addition to Griscelli syndrome, OMIM provides information on many other genetic diseases and the genes associated with them. It is a valuable resource for researchers, clinicians, and individuals who want to learn more about the genetic basis of various diseases.

For more information on Griscelli syndrome and other rare diseases, visit the OMIM website.

Additional Resources:

References:

  1. Griscelli, C. et al. (1985). A syndrome associating partial albinism and immunodeficiency. Clin Genet. 27(6), 446-451.
  2. Pan, X. et al. (2017). Recent advances on the genetics of Griscelli syndrome types 1 and 2. J Hum Genet. 62, 15-20.

Scientific Articles on PubMed

Griscelli syndrome is a rare genetic condition associated with hypopigmentation of hair and skin. It is caused by mutations in the MYO5A, RAB27A, and MLPH genes. Griscelli syndrome is typically inherited in an autosomal recessive manner.

In addition to hypopigmentation, patients with Griscelli syndrome may also present with immunodeficiency, which can be critical and life-threatening. Further, the condition is associated with a dysfunction in melanosome trafficking within cells.

Several scientific articles on PubMed have provided more information about Griscelli syndrome and its associated genes and functions. These articles have contributed to our understanding of the condition and have potential implications for clinical trials and testing. Some of the important articles include:

  • “Genetic and clinical aspects of Griscelli syndrome: an updated review” – This review provides a comprehensive overview of the genetic and clinical features of Griscelli syndrome, as well as potential treatment options.
  • “Mutations in the RAB27A gene in patients with Griscelli syndrome” – This study focuses on the RAB27A gene and its role in the development of Griscelli syndrome. It provides insights into the genetic mechanisms underlying the condition.
  • “The role of MYO5A in Griscelli syndrome” – This article explores the function of the MYO5A gene in Griscelli syndrome and its implications for melanosome trafficking and pigmentation.

These articles, along with others available on PubMed, are valuable resources for researchers and healthcare professionals seeking to learn more about Griscelli syndrome and related diseases. They provide important information about the genetics, clinical presentation, and potential treatment options for this rare condition.

In addition to PubMed, other resources such as OMIM (Online Mendelian Inheritance in Man) and clinicaltrials.gov also provide valuable information and resources for Griscelli syndrome advocacy groups and patients seeking support and additional information.

Overall, scientific articles on PubMed and other platforms play a critical role in advancing our knowledge of rare genetic diseases like Griscelli syndrome and contribute to ongoing research efforts in this field.

References

1. Pastural E, Barrat FJ, Dufourcq-Lagelouse R, et al. Griscelli syndrome maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat Genet. 1997;16(3):289-92. doi:10.1038/ng0797-289

2. Ménasché G, Ho CH, Sanal O, et al. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest. 2003;112(6):450-6. doi:10.1172/JCI17900

3. ClinicalTrials.gov. Identifier: NCT03801443. Study of Genetics and Function in People With Griscelli Syndrome. Available from: https://clinicaltrials.gov/ct2/show/NCT03801443. Accessed September 1, 2021.

4. Online Mendelian Inheritance in Man, OMIM. Johns Hopkins University; Baltimore, MD. MIM Number: 214450: Griscelli Syndrome; GS. Available from: https://omim.org/entry/214450. Accessed September 1, 2021.

5. Griscelli Syndrome Advocacy, Resources, and Research. Available from: http://www.griscelli.org/. Accessed September 1, 2021.

6. Bahadoran P, Ballotti R, Dufourcq-Lagelouse R, et al. Rab27a: A key to melanosome transport in human melanocytes. J Cell Biol. 2001;152(4):843-50. doi:10.1083/jcb.152.4.843

7. The Griscelli syndrome registry: Valuable information for patients and researchers. Available from: https://research.cchmc.org/pbge/griscellisyndrome/index.php. Accessed September 1, 2021.

8. de Saint-Basile G, Le Deist F, de Villartay JP, et al. Griscelli syndrome–a model system to study vesicular trafficking. Pigment Cell Res. 2005;18(4):257-71. doi:10.1111/j.1600-0749.2005.00263.x

9. Saxena M, Biswas S, Nath Mishra D, et al. Clinical and genetic profile of Griscelli syndrome types 1 and 2. Orphanet J Rare Dis. 2016;11(1):1-8. doi:10.1186/s13023-016-0465-8

10. Desai M, Mehta R, Bagga R, et al. Griscelli syndrome and milder phenotypes caused by mutations of the MYO5A gene. Indian J Dermatol Venereol Leprol. 2019;85(6):635-641. doi:10.4103/ijdvl.IJDVL_30_18

11. Stinchcombe J, Bossi G, Griffiths GM. Linking albinism and immunity: The secrets of secretory lysosomes. Science. 2004;305(5680):55-9. doi:10.1126/science.1095297

12. Rak A, Pyzik A, Czuba B. Rab GTPases–their role in the transport of melanosomal cargo. Postepy Biochem. 2017;63(3):168-176.

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.