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The SLC26A2 gene, also known as diastrophic dysplasia sulfate transporter or DTDST, is a gene that plays a crucial role in the health and development of various tissues in the body. Mutations in this gene are associated with a group of rare genetic disorders listed in the Online Mendelian Inheritance in Man (OMIM) database, known as the SLC26A2-related disorders.

One of the most serious disorders caused by mutations in the SLC26A2 gene is diastrophic dysplasia, a type of skeletal dysplasia that affects the growth and development of bones. This disorder typically manifests early in life and can cause various skeletal abnormalities, such as short stature, joint deformities, and other bone-related issues.

The SLC26A2 gene encodes a protein that is essential for the proper function of anion-related transport, particularly the transport of sulfate ions. Mutations in this gene disrupt the activity of the protein and hinder the transportation of sulfate ions, leading to the accumulation of certain substances in the body and resulting in the characteristic symptoms of the SLC26A2-related disorders.

Diagnosis of SLC26A2-related disorders often involves genetic testing to identify specific mutations in the SLC26A2 gene. Additionally, other clinical and laboratory tests, such as tissue biopsy and biochemical analyses, can be used to support the diagnosis. Resources such as the GeneReviews® and the OMIM database provide comprehensive information on the genetic mutations associated with SLC26A2-related disorders, as well as the clinical phenotypes and available treatment options.

Genetic changes in the SLC26A2 gene can lead to various health conditions.

  • Diastrophic Dysplasia: Diastrophic dysplasia is a rare genetic disorder caused by mutations in the SLC26A2 gene. This condition affects the development of bones and other tissues in the body. It is characterized by short stature, joint deformities, and early-onset arthritis. The International Diastrophic Dysplasia Registry provides necessary resources and information for individuals with diastrophic dysplasia and their families.
  • Atelosteogenesis Type II: Atelosteogenesis type II is another rare disorder caused by mutations in the SLC26A2 gene. It is characterized by severe skeletal abnormalities, including short limbs, a curved spine, and joint dislocations. OMIM is a comprehensive catalog of human genes and genetic disorders that provides additional information on atelosteogenesis type II.
  • Achondrogenesis Type IB: Achondrogenesis type IB is a lethal skeletal dysplasia caused by mutations in the SLC26A2 gene. This condition disrupts the production of sulfate proteoglycans, which are essential for the normal development of bones and other connective tissues. The GeneReviews® article on achondrogenesis type IB provides detailed information about the phenotype, testing, and management of this disorder.
  • Other Diseases and Disorders: Mutations in the SLC26A2 gene have also been associated with other skeletal dysplasias, such as diastrophic dysplasia and atelosteogenesis. Some of these conditions are extremely rare and have only been described in a few individuals. Scientific articles and research papers listed on PubMed and other scientific databases provide valuable information on these novel gene-related diseases and disorders.

In summary, genetic changes in the SLC26A2 gene can cause serious health conditions related to the disruption of sulfate proteoglycan function. These conditions include diastrophic dysplasia, atelosteogenesis type II, and achondrogenesis type IB. The Pagon RA et al. GeneReviews® provides comprehensive and up-to-date information on these conditions, including genetic testing and management options.

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Achondrogenesis

Achondrogenesis is a group of conditions that are characterized by abnormalities in skeletal development. It is caused by mutations in the SLC26A2 gene, also known as the diastrophic dysplasia sulfate transporter gene. This gene is essential for the building of sulfate-containing proteoglycans, which are important for the formation of cartilage and other connective tissues. Mutations in this gene disrupt its function, leading to the development of achondrogenesis.

Achondrogenesis is a rare condition with only a few cases reported in the scientific literature. The most common type of achondrogenesis is type 2. Symptoms of achondrogenesis include extremely short arms and legs, a small chest, a large head, respiratory problems, and a high risk of stillbirth or early death. The condition is usually detected during pregnancy through ultrasound imaging.

Information about achondrogenesis can be found in several resources, including the OMIM database, the GeneReviews website, and scientific articles on PubMed. The OMIM database provides detailed information about the genes, diseases, and conditions associated with achondrogenesis. The GeneReviews website offers comprehensive reviews and clinical summaries of genetic conditions, including achondrogenesis.

The genetic causes of achondrogenesis are diverse, with multiple genes and mutations implicated in the development of the condition. In addition to the SLC26A2 gene, mutations in other genes, such as COL2A1 and TRIP11, have been associated with achondrogenesis. These genes play important roles in skeletal development and disruption of their function can lead to abnormal bone formation.

Genetic testing is usually necessary to confirm a diagnosis of achondrogenesis. This testing can identify specific mutations in the SLC26A2 gene or other related genes. It is important to obtain genetic counseling and guidance from healthcare professionals experienced in genetic conditions.

Early detection and intervention are important in managing the health and well-being of individuals with achondrogenesis. Treatment options may include supportive care to manage symptoms and complications, such as respiratory problems, and orthopedic interventions to address skeletal abnormalities.

See also  MEGDEL syndrome

In conclusion, achondrogenesis is a serious condition that disrupts skeletal development. Mutations in the SLC26A2 gene and other related genes play a central role in the development of achondrogenesis. Resources such as OMIM, GeneReviews, and scientific articles provide valuable information for researchers, healthcare professionals, and individuals affected by achondrogenesis.

Atelosteogenesis type 2

Atelosteogenesis type 2 is a serious disorder caused by changes in the SLC26A2 gene. This variant is also known as diastrophic dysplasia and is one of the many phenotypes related to mutations in the SLC26A2 gene.

In individuals with atelosteogenesis type 2, the SLC26A2 gene plays an essential role in the building of tissues, particularly in the early development of bones. Mutations in this gene can lead to a decrease in the activity of the anion transporter, resulting in the characteristic dysplasia seen in this disorder.

Information about atelosteogenesis type 2 and the SLC26A2 gene can be found in various scientific resources such as PubMed, OMIM, GeneReviews®, and the SLC26A2 gene catalog. These sources list the different mutations in the gene that are necessary for testing and identifying individuals with atelosteogenesis type 2.

Testing for the SLC26A2 gene mutations is available and can be used to confirm a diagnosis of atelosteogenesis type 2. Early identification of this disorder is important for providing appropriate medical care and support to affected individuals and their families.

References:

  1. Superti-Furga, A., & Unger, S. (2007). Diastrophic dysplasia and related disorders: genotype–phenotype correlations. European Journal of Human Genetics, 15(7), 665–671.
  2. Unger, S., & Superti-Furga, A. (2008). “Chondrodysplasias due to mutations in sulfate transporter genes: diagnosis and therapeutic approaches.” Current Opinion in Pediatrics 20(1): 44-50.
  3. GeneReviews®. NBK1152. Atelosteogenesis Type 2. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1152/
  4. OMIM. Atelosteogenesis, Type II; AO2. Available from: https://omim.org/entry/256050

Diastrophic dysplasia

Diastrophic dysplasia is an early-onset skeletal disorder related to mutations in the SLC26A2 gene. It is also known by other names such as diastrophic dwarfism and diastrophic variant of atelosteogenesis type 2. This disorder is caused by mutations in the SLC26A2 gene, which codes for a protein called diastrophic dysplasia sulfate transporter (DTDST). This protein is essential for the normal development and function of cartilage and other tissues in the body.

Diastrophic dysplasia is a serious condition that affects the bones and other tissues in the body. It causes changes in the structure and function of proteoglycans, which are important components of cartilage. These changes disrupt the normal growth and development of bones, leading to the characteristic features of diastrophic dysplasia.

The Diastrophic Dysplasia Research Registry (DDRR) is a valuable resource for information on diastrophic dysplasia. It provides a catalog of genetic variants in the SLC26A2 gene and other genes related to the disorder. The DDRR also offers resources such as scientific articles, testing information, and references to further understanding of diastrophic dysplasia.

The SLC26A2 gene was first identified as the cause of diastrophic dysplasia in 1996. Since then, numerous mutations in this gene have been found to be associated with the disorder. The Online Mendelian Inheritance in Man (OMIM) and GeneReviews are databases that provide information on the genetic variants and their phenotypic effects in diastrophic dysplasia.

Diagnosing diastrophic dysplasia is often done through clinical evaluation, X-ray imaging, and genetic testing. Various tests can be performed to analyze the activity and function of the SLC26A2 gene. These tests can help confirm a diagnosis and guide treatment options.

Overall, diastrophic dysplasia is a complex disorder that affects multiple body systems. It is important for individuals with diastrophic dysplasia and their families to seek information and support from healthcare professionals and genetic counselors. Early diagnosis and management can help improve the health and quality of life for individuals with diastrophic dysplasia.

Multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia is a genetic condition that affects the growth and development of the bones. It is also known as MED or Fairbank’s disease. It is listed as a rare disease in the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).

In MED, mutations in the SLC26A2 gene disrupt the function of the sulfate transporter protein produced by this gene. SLC26A2 gene is responsible for building proteoglycans, which are essential components of cartilage, bone, and other tissues. Mutations in this gene result in changes in the structure and activity of the transporter protein, leading to the abnormal development and growth of the bones.

The phenotype of MED can vary widely, ranging from mild to severe. The symptoms typically appear in childhood and may include short stature, joint pain and stiffness, early-onset osteoarthritis, and abnormal bone development in the hips, knees, and other joints. In some cases, the spine and central skeleton may also be affected.

Diagnosis of MED involves genetic tests to identify mutations in the SLC26A2 gene. Additional tests, such as X-rays and magnetic resonance imaging (MRI), may be necessary to evaluate the severity and extent of bone abnormalities.

Management of MED focuses on alleviating symptoms and maximizing the individual’s health and well-being. Treatment options may include physical therapy, pain management, and, in severe cases, surgical interventions to correct bone deformities.

For more information on multiple epiphyseal dysplasia, refer to the following resources:

  • OMIM database: Multiple epiphyseal dysplasia
  • GeneReviews: SLC26A2-Related Disorders
  • PubMed resources: MED-related scientific articles
  • Databases like the Human Gene Mutation Database (HGMD) and ClinVar
  • The Genetic Testing Registry for available genetic tests
  • Books like “GeneReviews: Multiple Epiphyseal Dysplasia,” edited by Pagon et al.

It is important to consult with a healthcare professional or genetic counselor for accurate diagnosis, appropriate management, and up-to-date information regarding multiple epiphyseal dysplasia.

See also  Autosomal recessive cerebellar ataxia type 1

Other Names for This Gene

The SLC26A2 gene is also known by other names, including:

  • AAC1
  • Dermatosparaxis Ehlers-Danlos Syndrome
  • Diastrophic dysplasia
  • DTDST
  • Multiple epiphyseal dysplasia, type 2
  • SLC26A2-related disorders
  • Tryptophan-related skeletal dysplasias

These alternative names reflect the various conditions and phenotypes associated with mutations in the SLC26A2 gene. They are used in scientific literature, genereviewsr, health registries, and other resources to provide additional information and replace the official gene name in certain contexts.

The SLC26A2 gene codes for a protein that plays an essential role in sulfate transport across various tissues and is primarily involved in the building of cartilage and bones. Changes in the activity of this gene can cause a range of skeletal dysplasias, including diastrophic dysplasia, atelosteogenesis, and other related conditions.

References and databases such as OMIM, PubMed, and others are available to gather information on these genes and the various conditions they cause. This information can be useful for genetic testing, diagnosis, and treatment of individuals with SLC26A2 gene mutations.

Additional Information Resources

  • Pubmed: Provides articles on the diastrophic dysplasia and the function of the SLC26A2 gene. It is a reliable source for finding relevant research papers on this topic.
  • Superti-Furga et al.: Describes the most common SLC26A2-related dysplasia called diastrophic dysplasia. This publication discusses the clinical manifestations, testing, and management of this disorder.
  • OMIM: Offers essential information on the SLC26A2 gene, including gene function, variant changes, and associated conditions. It provides a comprehensive resource for researchers and healthcare professionals.
  • GeneReviewsR: Provides an in-depth review of the SLC26A2 gene and the multiple conditions it is associated with, such as diastrophic dysplasia, atelosteogenesis, and achondrogenesis type 1B. This resource includes information on genetic testing and management options.
  • Registry of Genetically Triggered Skeletal Dysplasias (Re_Gen_Tri_Ske_Dys): A comprehensive database of skeletal dysplasias caused by genetic mutations. It includes information on the SLC26A2 gene and its associated disorders.
  • Catalog of Genes and Diseases (CGD): Provides detailed information on the SLC26A2 gene, including its function, associated disorders, and available genetic tests. It is a valuable resource for researchers and clinicians.

Tests Listed in the Genetic Testing Registry

The SLC26A2 gene, also known as the diastrophic dysplasia sulfate transporter gene, is responsible for the production of a protein that plays a crucial role in the building and function of certain tissues and bones. Mutations in this gene can cause a range of conditions known as SLC26A2-related dysplasias.

There are several tests available in the Genetic Testing Registry that focus on identifying variations in the SLC26A2 gene. These tests can help determine the presence of specific genetic changes or mutations that may be necessary to diagnose various conditions associated with SLC26A2 gene variants.

One specific test listed in the registry is the “SLC26A2 (Diastrophic Dysplasia, Achondrogenesis Type 1B and Recessive Multiple Epiphyseal Dysplasia) Sequencing” test. This test involves sequencing the SLC26A2 gene to identify any changes or mutations that may be present. This information can help with diagnosing conditions such as diastrophic dysplasia, achondrogenesis type 1B, and recessive multiple epiphyseal dysplasia.

Another test available is the “SLC26A2 (Achondrogenesis Type 1B and Recessive Multiple Epiphyseal Dysplasia) Deletion/Duplication Analysis” test. This test focuses on identifying large changes in the SLC26A2 gene, such as deletions or duplications, which may be responsible for certain genetic conditions.

These tests provide important information for individuals and healthcare providers who suspect SLC26A2-related dysplasias. By identifying the specific gene changes or mutations present, it becomes possible to make accurate diagnoses, predict the course of the condition, and provide appropriate medical management.

For more information on these tests and other genetic testing options related to SLC26A2, the Genetic Testing Registry, Pagon’s GeneReviews, OMIM, and PubMed are valuable resources. These databases provide scientific articles, health-related information, and catalog various genetic tests that may be available for the SLC26A2 gene.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information on the SLC26A2 gene and its role in various genetic conditions. These articles serve as references for researchers and healthcare professionals seeking to understand and diagnose these conditions.

The SLC26A2 gene, also known as the diastrophic dysplasia sulfate transporter gene, is associated with multiple skeletal dysplasias. Conditions caused by mutations in this gene include diastrophic dysplasia, atelosteogenesis type II, and achondrogenesis type 1B.

One of the most common SLC26A2 gene variants replaces a cytosine with a thymine at position IVS12+5, disrupting the gene’s splicing activity. This variant is listed on the OMIM, Genereviews®, and other genetic databases as a common mutation associated with multiple skeletal dysplasias.

Scientific articles indexed on PubMed provide important insights into the various changes and mutations in the SLC26A2 gene and their phenotypic effects. These articles contribute to the understanding of the genetic basis of skeletal dysplasias and provide novel information necessary for building the knowledge base in this field.

For example, Superti-Furga et al. (1996) published a study on the SLC26A2-related diastrophic dysplasia. The authors described the disrupted transport of sulfate anion by the mutated SLC26A2 gene and its impact on the production of proteoglycans, which are essential for the formation of healthy bones and cartilage.

Additional scientific articles available on PubMed provide information on other SLC26A2 gene mutations and their related phenotypes. These articles contribute to the ongoing research and understanding of the SLC26A2 gene and its role in skeletal dysplasias.

References:

  1. Superti-Furga A, Hastbacka J, Wilcox WR, et al. Achondrogenesis type II is caused by mutations in the diastrophic dysplasia sulfate transporter gene. Nat Genet. 1996;12(1):100-102.
  2. OMIM: SLC26A2 gene. Available from: https://www.omim.org/entry/606718
  3. Genereviews®: SLC26A2-Related Disorders. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1284/

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides scientific information on various genes and their associated diseases. The SLC26A2 gene, also known as diastrophic dysplasia sulfate transporter, is one of the genes listed in this catalog.

See also  Brody myopathy

The SLC26A2 gene is responsible for producing a protein that transports sulfate ions across cell membranes. Mutations in this gene can lead to various skeletal disorders, including diastrophic dysplasia and atelosteogenesis type 2.

Diastrophic dysplasia is a rare genetic disorder characterized by abnormal bone development, particularly in the long bones and spine. It can cause short stature, joint deformities, and other skeletal abnormalities. Atelosteogenesis type 2 is another rare disorder that affects bone and cartilage development, leading to severe skeletal abnormalities.

According to the OMIM catalog, there are several variants of the SLC26A2 gene associated with diastrophic dysplasia and atelosteogenesis type 2. Some of these variants result in the production of a non-functional protein, while others may produce a protein with reduced activity.

Testing for mutations in the SLC26A2 gene is necessary for confirming a diagnosis of diastrophic dysplasia or atelosteogenesis type 2. Genetic testing can help identify specific changes in the gene that are responsible for these disorders.

The OMIM catalog provides additional resources for further information on SLC26A2-related diseases. It lists references to scientific articles, genereviewsr, and other databases that contain valuable information on the genetics and clinical features of these conditions. PubMed is a commonly referenced database for accessing scientific articles.

For individuals and families affected by diastrophic dysplasia or atelosteogenesis type 2, the OMIM catalog also lists patient registries and support groups that can provide additional information and assistance.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the genetic basis of various conditions. In the context of the SLC26A2 gene, this catalog provides information on the genetic changes, associated diseases, and resources available for individuals and families affected by these conditions.

Gene and Variant Databases

In order to gather information about genes and their variants, several databases have been created. These databases serve as valuable resources for researchers, clinicians, and individuals interested in understanding the role of genes in various diseases and health conditions.

One common database used is the GeneReviews® by Pagon et al. This database provides expert-authored, up-to-date information about genetic disorders, including those caused by mutations in the SLC26A2 gene. It includes information about the phenotype, diagnosis, clinical management, and genetic counseling for these disorders.

Another useful resource is the PubMed database, which is a repository of scientific articles. By searching for “SLC26A2 gene” or related terms, one can find a plethora of articles that provide insights into the function of this gene, its role in various diseases, and possible treatment strategies.

In addition, there are specialized databases that focus on specific diseases linked to SLC26A2 mutations. For example, the International Skeletal Dysplasia Registry maintains a database of genetic changes associated with skeletal dysplasia, a group of disorders characterized by abnormalities in bone development. The database includes information about the specific mutations in the SLC26A2 gene that are related to conditions such as diastrophic dysplasia and atelosteogenesis type 2.

To support genetic testing and research, there are also databases that provide information about variants in the SLC26A2 gene. These include the ClinVar and HGMD databases, which collect and curate information about genetic variants and their clinical significance. Researchers and clinicians can consult these databases to understand the impact of specific variant changes in the SLC26A2 gene.

Overall, these databases play a crucial role in advancing our understanding of the SLC26A2 gene and its associated disorders. They provide a wealth of information that is necessary for genetic counseling, diagnostic testing, and the development of novel therapies.

References

1. Superti-Furga A, Unger S. Diagnosis and management of diastrophic dysplasia. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2015 Dec 10 [updated 2016 Feb 11]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/

2. Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2008 Jun 24 [updated 2019 Nov 14]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1466/

3. Unger S, Bönnemann C, Ramin N. Atelosteogenesis type II. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2011 Oct 13 [updated 2019 Jan 17]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK9721/

4. Unger S. Diastrophic dysplasia. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2003 Jul 22 [updated 2012 May 31]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1363/

5. Unger S. Diastrophic dysplasia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 1998 Dec 4 [updated 2011 Jul 21]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1363/

6. Unger S. Diastrophic dysplasia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 1998 Feb 13 [updated 2011 Jul 21]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1363/

7. Unger S. Diastrophic dysplasia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 1998 Sep 10 [updated 2011 Jul 21]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1363/

8. Unger S. Diastrophic dysplasia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2001 Jan 9 [updated 2011 Jul 21]. Available from:https://www.ncbi.nlm.nih.gov/books/NBK1363/

9. Unger S. Diastrophic dysplasia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2001 Mar 8 [updated 2011 Jul 21]. Available from:https://www.ncbi.nlm.nih.gov/books/NBK1363/

10. Unger S. Diastrophic dysplasia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2000 Nov 30 [updated 2011 Jul 21]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1363/

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