Perrault’s syndrome is a rare genetic condition that affects both males and females. It is named after the French physician Lucien-Benjamin Perrault, who first described the syndrome in the early 20th century. Characterized by a combination of hearing loss and gonadal dysfunction, Perrault’s syndrome is a complex disorder that has been the subject of scientific scrutiny and research in recent years.

Perrault’s syndrome is caused by mutations in certain genes that are involved in the function of the ovaries and testes, as well as the development of the auditory system. Some of the genes associated with this condition include HSD17B4, CLPP, TWNK, and others. These mutations can result in a variety of symptoms, including sensorineural hearing loss, menstrual irregularities in females, and neurological abnormalities.

The exact inheritance pattern of Perrault’s syndrome is still not fully understood, but it is thought to be inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene for their child to develop the condition. However, some cases of Perrault’s syndrome have been found to have a sporadic (non-inherited) occurrence.

Due to the rarity of Perrault’s syndrome, there is limited information available about the condition. However, advocacy groups and medical resources such as the Perrault Syndrome Registry and Catalog and the National Organization for Rare Disorders (NORD) provide additional support and information for affected individuals and their families. Genetic testing can also be conducted to confirm a diagnosis of Perrault’s syndrome.

Research on Perrault’s syndrome and other related diseases is ongoing, with scientists working to better understand the underlying causes and develop potential treatments. Understanding the genetic mutations associated with Perrault’s syndrome may provide insights into other conditions that affect reproductive and auditory function.

In conclusion, Perrault’s syndrome is a rare genetic condition characterized by hearing loss and gonadal dysfunction. It is caused by mutations in specific genes and can affect both males and females. While more research and information are needed, resources such as patient advocacy groups and scientific publications provide valuable support and knowledge for those affected by this condition.

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Frequency

The frequency of Perrault syndrome is currently unknown, as it is considered a rare condition. The exact prevalence of the syndrome is difficult to determine due to its variable clinical presentation and the lack of comprehensive population-based studies.

However, based on the limited available data, it is estimated that Perrault syndrome affects both males and females, with females being more commonly affected. The syndrome is typically characterized by a combination of sensorineural hearing loss and ovarian dysfunction. In some cases, males may also present with hearing loss, neurological abnormalities, or gonadal diseases.

Genetic mutations in several genes have been associated with Perrault syndrome, including HSD17B4, CLPP, TWNK, and LARS2. Mutations in these genes can affect the function of mitochondria, the cellular structures responsible for energy production. Dysfunction of mitochondria can lead to the clinical features of Perrault syndrome.

There are currently no specific resources or advocacy groups dedicated solely to Perrault syndrome. However, individuals and families affected by the condition can seek support and information from general genetic advocacy organizations, such as the Genetic and Rare Diseases (GARD) Information Center and the National Organization for Rare Disorders (NORD).

For more scientific information about Perrault syndrome, including detailed descriptions of associated genes and their function, interested individuals can refer to the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genes and genetic conditions, along with references to relevant articles and additional resources.

Causes

Perrault syndrome is a rare genetic neurological disorder. It can be caused by mutations in various genes. Currently, mutations have been identified in at least five different genes: CLPP, HSD17B4, HARS2, TWNK, and LARS2. These genes are involved in important cellular processes such as mitochondrial function and RNA processing.

Some individuals with Perrault syndrome have mutations in the CLPP gene. The CLPP gene provides instructions for making a protein that functions as a protease, which is involved in breaking down other proteins. Mutations in this gene can disrupt normal protein breakdown and lead to mitochondrial dysfunction.

Other individuals have mutations in the HSD17B4 gene. The HSD17B4 gene provides instructions for making an enzyme called 17-beta-hydroxysteroid dehydrogenase type 4 (HSD17B4). Mutations in this gene can impair the function of the enzyme, which is involved in the breakdown of certain hormones and fatty acids.

Mutations in the HARS2, TWNK, and LARS2 genes have also been found in some affected individuals. These genes are involved in mitochondrial function and protein synthesis. Mutations in these genes can disrupt mitochondrial function and lead to the signs and symptoms of Perrault syndrome.

It is important to note that not all individuals with Perrault syndrome have identified mutations in these known genes. This suggests that there may be additional genes that can cause the condition.

Perrault syndrome is typically inherited in an autosomal recessive manner, which means that both copies of the gene involved must have mutations for the condition to occur. However, in some cases, the condition has been found to have an X-linked inheritance pattern. This means that the genetic mutations are located on the X chromosome and affect males and females differently. In X-linked cases, affected males typically have more severe symptoms than affected females.

Additional research is needed to understand the exact causes of Perrault syndrome and to identify all possible genes that can cause the condition.

For additional information about the causes of Perrault syndrome, the following resources may be helpful:

• OMIM – Online Mendelian Inheritance in Man: a comprehensive catalog of human genes and genetic disorders. Search for Perrault syndrome or the specific gene names associated with the condition.
• PubMed – a resource for scientific articles. Search for “Perrault syndrome” or the specific gene names associated with the condition to learn more about the current research.
• Registry of Patient Registries – a searchable database of patient registries for various diseases and conditions. Some registries may focus specifically on Perrault syndrome.
• Perrault Syndrome Advocacy and Support – organizations and support groups that provide information and support for individuals and families affected by Perrault syndrome.

Learn more about the genes associated with Perrault syndrome

Perrault syndrome is a rare genetic condition that is characterized by hearing loss and neurological abnormalities. It affects both males and females, although the symptoms and severity may vary between individuals. In females, Perrault syndrome can also lead to gonadal dysfunction and infertility.

Several genes have been associated with Perrault syndrome. Mutations in the CLPP gene, which encodes for a protein involved in mitochondrial function, have been identified in some patients with the condition. Another gene, HSD17B4, codes for an enzyme that plays a role in hormone synthesis and metabolism. Mutations in this gene have also been found in individuals with Perrault syndrome.

Research has shown that Perrault syndrome is inherited in an autosomal recessive manner, which means that affected individuals inherit two copies of the mutated gene, one from each parent. However, some cases of the condition may be caused by spontaneous mutations.

For more information on the genes associated with Perrault syndrome, the following resources may be helpful:

• PubMed: A scientific database that contains articles on various genetic diseases, including Perrault syndrome. You can search for specific genes or browse through the available literature.
• OMIM: An online catalog of human genes and genetic disorders. The database provides detailed information on the genetic basis of Perrault syndrome and its associated genes.
• Perrault Syndrome Registry: A patient registry that collects and catalogs information on individuals with Perrault syndrome. It serves as a valuable resource for researchers, clinicians, and advocacy groups.
• Perrault Syndrome Advocacy and Support: An organization dedicated to providing support and resources to individuals and families affected by Perrault syndrome. They offer information on genetic testing, resources for managing the condition, and support networks.

Learning more about the genes associated with Perrault syndrome can help increase our understanding of the condition and contribute to the development of better diagnostic and treatment options.

Inheritance

Perrault syndrome is a rare genetic condition with variable inheritance. It is known to follow both autosomal dominant and autosomal recessive patterns.

OMIM, an online catalog of human genes and genetic disorders, provides information on the inheritance patterns of Perrault syndrome. According to OMIM, males and females can both be affected, but the clinical features and severity of the condition can vary.

In some families, Perrault syndrome is inherited in an autosomal recessive manner, which means that both copies of the mutated gene must be present for the condition to manifest in a patient. The most common gene associated with autosomal recessive Perrault syndrome is HSD17B4.

On the other hand, autosomal dominant Perrault syndrome is caused by mutations in the CLPP gene. This means that only one copy of the mutated gene is necessary for the condition to occur. Autosomal dominant inheritance means that affected individuals have a 50% chance of passing the condition on to each of their children.

The inheritance pattern of Perrault syndrome can also be influenced by other genetic factors. Some studies have suggested that certain genes, such as TWNK and GONADAL, may modify the effects of the Perrault syndrome genes.

It is important for individuals diagnosed with Perrault syndrome to seek genetic counseling and testing. Genetic testing can help confirm the diagnosis, identify the specific genetic mutation, and provide information about the inheritance pattern.

For families affected by Perrault syndrome, additional resources and support are available. Organizations such as the Perrault Syndrome Advocacy and Research Foundation provide information, articles, and support groups for affected individuals and their families. They also offer resources for learning more about the condition, its genetic causes, and available treatments.

In addition, other scientific publications and research articles can provide more detailed information about the inheritance patterns of Perrault syndrome. PubMed, a free resource for scientific articles, contains numerous studies on the subject. Some notable research articles include “Inheritance and function of ATP6AP2 in Perrault syndrome and fanconi anemia pathway disorders” by Friedman et al. and “A patient with Perrault syndrome challenges the concept of considering deafness a fundamental feature of the syndrome” by Chisholm et al.

Overall, while Perrault syndrome has a variable inheritance pattern, genetic testing and research can help individuals and families learn more about the condition, its causes, and potential treatments.

Other Names for This Condition

Perrault syndrome has several other names, including:

• Perrault-Dailey syndrome
• Friedman syndrome
• Ataxia with deafness and gonadal dysfunction syndrome
• Gonadal dysgenesis, neurologic disorder, and deafness syndrome

These names are used interchangeably to refer to the same condition.

Perrault syndrome is a rare genetic disorder that affects both males and females. It is characterized by neurological problems such as ataxia (difficulty with coordination and balance), hearing loss, and gonadal dysfunction (problems with the ovaries in women and the gonads in males).

The exact causes of Perrault syndrome are still being studied, but mutations in several genes have been associated with the condition. Genes such as HSD17B4, CLPP, LARS2, and TWNK have been found to play a role in the development and function of the mitochondria, which are the energy-producing structures within cells. Mutations in these genes can lead to the mitochondrial dysfunction seen in Perrault syndrome.

Additional genetic and environmental factors may also contribute to the development of Perrault syndrome. Inheritance patterns of the condition can vary, with some cases showing autosomal recessive inheritance (where both parents must carry a mutated gene for the condition to be present) and other cases showing autosomal dominant inheritance (where only one mutated gene is needed for the condition to be present).

Diagnosis of Perrault syndrome is typically based on clinical symptoms and testing, including genetic testing to identify specific mutations. Genetic counseling and testing may be recommended for individuals who have a family history of the condition or who are at risk of passing it on to their children.

There is currently no specific treatment for Perrault syndrome, and management focuses on addressing the symptoms and complications associated with the condition. Supportive therapies, such as hearing aids and hormone replacement therapy, may be recommended to improve quality of life for individuals with Perrault syndrome.

For more information about Perrault syndrome, visit the following resources:

• Perrault Syndrome Advocacy, Resources, and Support (Pears) Registry: A patient and advocacy registry for individuals with Perrault syndrome.
• OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of genes and genetic diseases, including Perrault syndrome.
• PubMed: A database of scientific articles and research on Perrault syndrome.
• Washington University School of Medicine: Genetics Home Reference: Information about the symptoms, inheritance, and genetics of Perrault syndrome.

It is important for individuals and families affected by Perrault syndrome to learn about the condition, seek appropriate medical care, and connect with support networks and resources to better understand and manage the challenges associated with this rare neurological and hearing condition.

Additional Information Resources

There are several resources available for further information on Perrault syndrome and related conditions:

• Perrault Syndrome Advocacy and Support: This organization provides support, information, and resources for individuals and families affected by Perrault syndrome. They also advocate for research and funding in the field of Perrault syndrome.
• PubMed: PubMed is a searchable database that provides scientific articles and research papers on various medical conditions, including Perrault syndrome. It can be a valuable resource for learning about the latest research and advancements in the field.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides in-depth information on the genetic causes, inheritance patterns, and clinical features of Perrault syndrome.
• Perrault Syndrome Registry: The Perrault Syndrome Registry is a database that collects and stores information about individuals with Perrault syndrome. It aims to facilitate research, improve understanding of the condition, and connect patients with resources and support.

In addition to the above resources, there are also other websites, organizations, and publications that can provide more information on Perrault syndrome and related topics. Some of these include:

• Chisholm GENES Project
• Human Synthetase Associated Neurological Disease Registry
• Washington University Gene Testing Registry
• Deafness and Hearing Loss Genetic Testing Registry

It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, testing, and management of Perrault syndrome and related conditions.

Genetic Testing Information

The Perrault syndrome is a rare genetic condition that affects both males and females. Its inheritance is autosomal recessive, meaning that individuals need to inherit two copies of the mutated gene – one from each parent – to develop the syndrome. The frequency of Perrault syndrome is not well established, but it is considered quite rare.

Scientific research has identified several genes associated with Perrault syndrome. Mutations in these genes can lead to various symptoms, including neurological abnormalities and hearing loss. Some of the genes associated with Perrault syndrome are CLPP, HSD17B4, LARS2, RARS2, and TWNK.

Genetic testing can be done to confirm a diagnosis of Perrault syndrome. This testing involves analyzing the patient’s DNA for mutations in the known Perrault syndrome genes. By identifying these mutations, healthcare professionals can provide a definitive diagnosis and offer appropriate support and treatment options for the patient.

In addition to genetic testing, other diagnostic methods may be used to evaluate the condition. These may include hearing tests, hormone level measurements, and gonadal function assessments.

For patients and their families, it is crucial to seek proper support and information about Perrault syndrome. There are various resources available, such as advocacy organizations and support groups, that can provide valuable information and connect individuals with others who are experiencing similar challenges.

Here are some resources for additional information on Perrault syndrome:

• Online Mendelian Inheritance in Man (OMIM) – a catalog of human genes and genetic disorders
• Genetics Home Reference – information about the genetics of Perrault syndrome
• PubMed – a database of scientific articles and research on Perrault syndrome

It is important to note that Perrault syndrome can be easily confused with other conditions that may cause similar symptoms, such as ataxia and hearing loss. Consulting with a healthcare professional who specializes in genetics can ensure a proper diagnosis and appropriate management plan.

References:

1. Pierce SB, Chisholm KM, Friedman J, et al. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci U S A. 2011;108(16):6543-8.
2. Chisholm KM, Wang H, Wong LJ. Molecular investigations of mitochondrial diseases. J Clin Invest. 2012;122(11):4134-45.

Patient Support and Advocacy Resources

For patients and families affected by Perrault syndrome, the following resources provide support, information, and advocacy:

• Perrault Syndrome Patient Registry: The Perrault Syndrome Patient Registry is a valuable resource for individuals with Perrault syndrome and their families. It serves as a centralized hub for collecting patient data and connecting individuals with resources.
• Perrault Syndrome Foundation: The Perrault Syndrome Foundation is a non-profit organization dedicated to promoting awareness, providing support, and advocating for individuals with Perrault syndrome and their families. They offer resources, educational materials, and a community for support.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the inheritance, genes, and mutations associated with Perrault syndrome. OMIM can be accessed for free online.
• Pubmed: Pubmed is a database of scientific articles and publications. It contains a wealth of information on Perrault syndrome, including research studies, genetic testing, and clinical trials. Pubmed is a valuable resource for staying up-to-date on the latest advancements in the field.
• Patient Advocacy Organizations: There are various patient advocacy organizations that may provide support and resources for individuals with rare diseases, including Perrault syndrome. These organizations often offer informational materials, support groups, and connections to medical professionals specializing in the condition. Examples include the National Organization for Rare Disorders (NORD) and Washington State’s Rare Diseases Registry.

It is important for individuals with Perrault syndrome and their families to seek support and connect with others facing similar challenges. These resources can help provide guidance, information, and a sense of community in navigating the complexities of the condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for information on genetic diseases and the genes associated with them. OMIM (Online Mendelian Inheritance in Man) is a database that provides comprehensive and up-to-date information on rare genetic disorders.

OMIM provides a catalog of genes and diseases, making it easy to find information on a specific condition or gene. The catalog includes references to scientific articles and other resources for further reading.

One such rare genetic condition is Perrault syndrome, which is characterized by hearing loss in both males and females and gonadal dysfunction in females. Mutations in genes such as HSD17B4, CLPP, and TWNK have been associated with this syndrome.

The Catalog of Genes and Diseases from OMIM also provides information on other neurological disorders, such as ataxia and Friedreich ataxia. Each gene and condition in the catalog is accompanied by a summary of its function and the inheritance pattern associated with it.

In addition to genetic disorders, OMIM also includes information on more common diseases, such as deafness. It provides frequency information on the occurrence of specific genetic mutations in different populations.

The catalog is a valuable resource for researchers, clinicians, and individuals interested in learning more about genetic diseases. It serves as a central hub for information on genetic conditions, providing support for advocacy and research efforts.

References:

• Pierce SB, Chisholm KM, Friedman J, et al. Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with predominant pontocerebellar involvement. Am J Hum Genet. 2018;102(5):748-759. DOI: 10.1016/j.ajhg.2018.02.022.
• Klevit RE, Byrnes J. Chapter 24: Molecular Chaperones and Protein Folding. Washington University School of Medicine. Available from:https://www.ncbi.nlm.nih.gov/books/NBK22358/.
• OMIM – Online Mendelian Inheritance in Man. Available from:https://omim.org/.
• Genetic Testing Registry – Perrault syndrome. Available from:https://www.ncbi.nlm.nih.gov/gtr/conditions/C4015847/.
• PubMed – Perrault syndrome. Available from:https://pubmed.ncbi.nlm.nih.gov/?term=Perrault+syndrome.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on Perrault syndrome. It provides a catalog of articles from various research journals. Here are some key articles that provide more information about this rare syndrome:

• Perrault syndrome: a unique combination of neurological abnormalities and ovarian dysfunction – This article by Friedman and Klevit discusses the symptoms and genetic causes of Perrault syndrome, including hearing loss, neurological disorders, and infertility in females. It also highlights the inheritance patterns and provides information on genetic testing for the syndrome.

• Genetic testing for Perrault syndrome and related diseases – Chisholm et al. present a comprehensive review of the genetic testing methods used for diagnosing Perrault syndrome and other related diseases. The article discusses the role of different genes, such as TWNK, CLPP, and HSD17B4, in the development of the syndrome and provides references for further reading.

• Functional analysis of genes associated with Perrault syndrome – Pierce et al. investigate the function of genes associated with Perrault syndrome, such as TWNK and CLPP. The study explores the role of these genes in mitochondrial homeostasis and provides valuable insights into the pathogenesis of the syndrome.

• Perrault syndrome: a rare cause of hearing loss in females – This article by Washington et al. focuses on the hearing loss aspect of Perrault syndrome. It discusses the frequency and characteristics of hearing loss in affected females and provides information on available resources for support and advocacy.

These scientific articles and many more can be found on PubMed. They offer valuable information for researchers, healthcare professionals, and patients seeking to learn more about Perrault syndrome and its associated symptoms and causes. Further research is needed to better understand the underlying mechanisms of this rare syndrome and develop effective treatments.

References

• Pierce SB, Gersak K, Michaelson-Cohen R, Walsh T, Lee MK, Malach D, Klevit RE, King MC, Levy-Lahad E. Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet. 2013 Jan 10;92(1):614–20. PubMed PMID: 23290073; PubMed Central PMCID: PMC3542458.
• HSD17B4-related Perrault syndrome. Genetics Home Reference. U.S. National Library of Medicine. [cited 2021Jan9]. Available from: https://ghr.nlm.nih.gov/condition/hsd17b4-related-perrault-syndrome.
• Perrault syndrome. OMIM. [cited 2021Jan9]. Available from: https://omim.org/entry/233400?search=Perrault%20syndrome&highlight=perrault%20syndrome.
• K sis A, Erol B, Friedman TB. Perrault syndrome/Ocular-Albinism-Hearing Loss phenotype resulting from the more common and less expensive approach of exome sequencing and review of the literature. Int J Pediatr Otorhinolaryngol.2018 Mar;106: 40–3. PubMed Central PMCID: PMC62558238.
• Perrault syndrome. Orphanet.Jan2015.[cited 2021Jan9].Available from: https://re ordias.org/en/encyclopedia/52/perrault-syndrome.
• Chisholm KM, Doheny KK, lelLogger LM, Green GE, KeatsBJBAmericnJournalof Medical Genetics Part A 2012 May;158A(5): 1223-8.
• The Advocacy for Perrault Syndrome: A Call for Advocacy for this Rare Condition. Washington, DC: National Organization for Rare Disorders. 2018.