The SHOX gene, also known as Short Stature Homeobox-containing gene, is a crucial gene that plays a significant role in human growth and development. It is located on the X and Y chromosomes and is responsible for regulating skeletal growth. Mutations or variations in the SHOX gene can lead to various disorders and diseases, particularly affecting the height of individuals.

Children and people with SHOX gene haploinsufficiency, which is the shortage or alteration of the gene’s activity, may develop conditions such as Turner syndrome, Langer mesomelic dysplasia, dyschondrosteosis, and idiopathic short stature. Each of these conditions is characterized by specific changes in the skeletal growth and development, manifesting in short stature and other related symptoms.

Research studies and scientific literature have extensively described the SHOX gene and its role in various disorders and conditions. Citations and references listed in these articles provide additional information and resources for further reading and exploration of the topic. Genetic testing and analysis of the SHOX gene can be conducted to diagnose and assess the presence of mutations or variations that may contribute to specific health-related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the SHOX gene can cause several health conditions and disorders. This gene is responsible for regulating skeletal growth and development. When there are changes or mutations in this gene, it can lead to various genetic conditions and diseases.

Some of the health conditions related to genetic changes in the SHOX gene include:

• Langer mesomelic dysplasia: A rare skeletal dysplasia characterized by abnormal limb development, particularly in the legs.
• Dyschondrosteosis: Another skeletal dysplasia that affects the growth and development of the bones in the arms and legs.
• Turner syndrome: A genetic disorder that affects females and is caused by the partial or complete absence of one of the X chromosomes.
• Mayer-Rokitansky-Küster-Hauser syndrome: A rare disorder that affects the development of the reproductive system in females.

These are just a few examples of the health conditions associated with genetic changes in the SHOX gene. There may be other related disorders as well.

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It is important for individuals with these genetic changes to undergo genetic testing to confirm the diagnosis. Genetic testing can help identify specific changes in the SHOX gene and provide valuable information for health management.

Additional resources, such as genetic databases and registries, provide further information on these conditions and related genes. Some of these resources include the Online Mendelian Inheritance in Man (OMIM) catalog, which lists genetic disorders and genes associated with them, and the Human Gene Mutation Database (HGMD), which provides information on gene variants and related diseases.

Healthcare professionals can use these resources to access further information, references, and articles on these conditions and genes. They can also recommend appropriate genetic testing and provide guidance on managing the health of individuals with these genetic changes.

References:

1.	Rappold, G. A. (2006). The pseudoautosomal regions of the human sex chromosomes. Clinical Genetics, 70(1), 11-18.
2.	Heinrich, C., et al. (2020). SHOX-related short stature: From dyschondrosteosis to Léri-Weill dysplasia. Annals of Pediatric Endocrinology & Metabolism, 25(2), 74-80.

Langer mesomelic dysplasia

Langer mesomelic dysplasia is a rare skeletal disorder characterized by shortening and deformity of the limbs. It is caused by changes in the SHOX gene, which is involved in skeletal growth and development.

Children with Langer mesomelic dysplasia have significantly shorter legs than average, resulting in a characteristic appearance of short stature. They may also have additional skeletal abnormalities, such as bowing of the long bones and irregularities in bone shape and structure.

The diagnosis of Langer mesomelic dysplasia is typically made based on clinical information and radiographic findings. Genetic testing can confirm the presence of SHOX gene changes, such as haploinsufficiency, which means there is a shortage of functional SHOX protein.

There are several databases and resources available for clinicians and researchers to access information on genetic changes associated with Langer mesomelic dysplasia. These include PubMed, OMIM, and scientific articles on the topic. Additionally, genetic testing laboratories may offer specific tests for Langer mesomelic dysplasia.

It is important to consider other related conditions and syndromes when diagnosing Langer mesomelic dysplasia. Some of these include Turner syndrome, idiopathic short stature, dyschondrosteosis, and Léri-Weill dysplasia. These disorders may have overlapping features with Langer mesomelic dysplasia and may require additional testing to differentiate between them.

The Langer Mesomelic Dysplasia Registry provides a catalog of names for the syndrome and provides information on testing and genetic changes associated with the condition. The registry also offers resources for healthcare providers, including references and citation information.

In conclusion, Langer mesomelic dysplasia is a rare genetic disorder characterized by skeletal abnormalities and short stature. It is caused by changes in the SHOX gene and can be diagnosed through clinical evaluation and genetic testing. Additional testing may be required to distinguish Langer mesomelic dysplasia from other related conditions. Resources such as the Langer Mesomelic Dysplasia Registry can provide valuable information for healthcare providers and researchers.

Léri-Weill dyschondrosteosis

Léri-Weill dyschondrosteosis is a skeletal dysplasia characterized by mesomelic short stature and shortening of the bones in the forearms and lower legs. It is also known as dyschondrosteosis Léri-Weill, dyschondrosteosis of the Langer type, and mesomelic dysplasia of the legs.

Léri-Weill dyschondrosteosis is a genetic disorder caused by mutations in the SHOX gene. This gene is located on the X and Y chromosomes and is involved in regulating bone growth. Mutations in the SHOX gene lead to haploinsufficiency, meaning there is a shortage of functional SHOX genes to carry out their normal activity. This results in abnormal skeletal growth and the characteristic features of Léri-Weill dyschondrosteosis.

Diagnosis of Léri-Weill dyschondrosteosis can be confirmed through genetic testing, which detects changes in the SHOX gene. Additionally, clinical examination and imaging tests, such as X-rays, can help in the diagnosis.

Léri-Weill dyschondrosteosis is often associated with other genetic conditions, such as Turner syndrome and idiopathic short stature. It is important for individuals with Léri-Weill dyschondrosteosis to undergo regular medical monitoring to detect and manage any associated health conditions.

For more information on Léri-Weill dyschondrosteosis, you can refer to the Online Mendelian Inheritance in Man (OMIM) catalog. This catalog provides comprehensive genetic information on various disorders, including Léri-Weill dyschondrosteosis. Additionally, scientific articles and references in the field of genetics and skeletal dysplasia can provide further resources.

References:

1. Rappold, GA. (2001). The pseudoautosomal regions of the human sex chromosomes. Hum Genet. 109(4): 421-431.
2. Heinrich, JJ. et al. (1995). Léri-Weill dyschondrosteosis and the pseudoautosomal regions: insights into growth plate regulation. Tsitol Genet. 29(3): 62-68.
3. Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH). (n.d.). In: Handbook of Genetic Counseling and Prenatal Diagnosis. Cham: Springer. 1181-1187.

Mayer-Rokitansky-Küster-Hauser syndrome

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis or vaginal agenesis, is a rare congenital disorder affecting the reproductive system in females. It is characterized by the absence or underdevelopment of the uterus and upper portion of the vagina, while the ovaries are normally functioning.

MRKH syndrome was first described by August Franz Joseph Karl Mayer in 1829, and then independently by Carl Freiherr von Rokitansky and Hermann Küster in the 19th century. It is estimated that MRKH syndrome affects 1 in 4,000 to 1 in 5,000 females worldwide.

MRKH syndrome is typically diagnosed during puberty when a female fails to start menstruating. Apart from the absence of the uterus and upper vagina, other physical abnormalities may also be present, such as skeletal abnormalities in the spine or kidneys.

The exact cause of MRKH syndrome is not fully understood, but it is believed to be multifactorial, involving both genetic and environmental factors. Recent research has identified potential genetic changes associated with the syndrome, including variants in the SHOX gene, which is also linked to skeletal growth disorders like Léri-Weill dyschondrosteosis and mesomelic dysplasia. However, further studies are necessary to understand the genetic basis and mechanisms behind MRKH syndrome.

Diagnosis of MRKH syndrome typically involves a combination of medical history review, physical examination, and imaging tests such as ultrasounds. In some cases, genetic testing may be recommended to identify any underlying genetic changes. Additional tests may also be conducted to evaluate the overall health and well-being of individuals with MRKH syndrome.

There are several resources available for individuals and families affected by MRKH syndrome. Scientific articles, databases, and registries provide valuable information and support. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic disorders and related genes. PubMed offers a wide range of articles and citation indexes on MRKH syndrome and related conditions. The Turner Syndrome Society of the United States provides resources and support specifically for individuals with Turner syndrome, a condition associated with haploinsufficiency of the SHOX gene.

In conclusion, Mayer-Rokitansky-Küster-Hauser syndrome is a rare congenital disorder affecting the female reproductive system. It is characterized by the absence or underdevelopment of the uterus and upper portion of the vagina. While the exact cause is not fully understood, genetic changes and environmental factors are believed to play a role. Diagnosis involves medical history review, physical examination, and imaging tests. Various resources and support networks are available for individuals and families affected by MRKH syndrome.

Turner syndrome

Turner syndrome is a genetic condition that affects females. It is characterized by the absence or abnormality of one of the two X chromosomes. Some common features of Turner syndrome include short stature, webbed neck, and a broad chest.

The SHOX gene, which is located on the X chromosome, has been linked to the skeletal and growth abnormalities seen in Turner syndrome. This gene plays a role in bone development and its haploinsufficiency can lead to the short stature observed in individuals with Turner syndrome.

The Turner Syndrome Society of the United States provides information, resources, and support for individuals and families affected by Turner syndrome. They offer genetic testing and counseling services for those who may be at risk or diagnosed with Turner syndrome.

Scientific articles, databases, and resources such as PubMed, OMIM, and the ClinGen database provide additional information on the genetic changes and related conditions associated with Turner syndrome. These resources can be used to find more information on specific genes, disorders, and testing options.

Some of the related conditions that may be seen in individuals with Turner syndrome include Langer syndrome, Rappold syndrome, Heinrich syndrome, and Mayer-Rokitansky-Küster-Hauser syndrome. In addition, Turner syndrome is also associated with other skeletal dysplasias and growth disorders.

When a diagnosis of Turner syndrome is suspected, a variety of tests can be performed to confirm the diagnosis and assess the extent of the condition. These tests may include genetic testing, hormone testing, and imaging studies such as bone age assessment and echocardiography.

Turner syndrome is a lifelong condition that requires ongoing medical care and management. Treatment options may include growth hormone therapy, hormone replacement therapy, and psychological support. Regular check-ups with a specialist in endocrinology and genetics are important to monitor the health and development of individuals with Turner syndrome.

Other disorders

Aside from SHOX gene, there are other genetic disorders that affect skeletal development and growth. Some of these disorders involve variations in different genes and exhibit distinct clinical features.

• Turner syndrome (TS): TS is caused by the complete or partial loss of one of the two X chromosomes in females. It is often associated with short stature and various skeletal abnormalities.

• Léri-Weill dyschondrosteosis (LWD): LWD is a genetic condition that primarily affects bone growth and development, leading to skeletal dysplasia. This disorder is caused by mutations in the SHOX gene and results in short stature and mesomelic limb shortening.

• Mesomelic dysplasia: Mesomelic dysplasia refers to a group of genetic disorders characterized by shortening and bowing of the long bones in the legs, resulting in disproportioned limb length. Various genes have been associated with different forms of mesomelic dysplasia, including the NPR2 and GDF5 genes.

• Mayer-Rokitansky-Küster-Hauser syndrome (MRKH): MRKH syndrome is a congenital disorder characterized by the absence or underdevelopment of the uterus and the upper part of the vagina in females. Although the exact cause of MRKH syndrome is unknown, it has been linked to genetic factors and may involve dysregulation of several genes.

For more information on these disorders and other related conditions, the Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic basis, clinical features, and diagnostic tests available for each disorder, along with references to scientific articles and resources. The OMIM database can be accessed through the National Center for Biotechnology Information’s website (PubMed).

Other Names for This Gene

• Short Stature Homeobox Gene
• SHOX1
• Phosphate and Tensin Homolog
• Langer Short Stature
• SHOXY
• Sex Chromosome Abnormalities of Turner Syndrome and/or Short Stature
• Pseudoautosomal Homeobox-containing Osteogenic Factor
• Idiopathic Gonadal Failure and Short Stature
• Growth Disorder Short Stature with Madelung Deformity of the Forearm
• Aortic Valve Disease with Short Stature and Skeletal Abnormalities
• Peters Anomaly with Short Stature Syndrome
• Growth and Developmental Defects with Short Stature and Craniofacial Anomalies

This gene is also known by various other names. The different names for the SHOX gene are listed above. These alternate gene names can be found in various scientific resources and databases. The gene name can sometimes change, or additional names may be added as new information and research on the gene and associated diseases is described.

The SHOX gene is associated with several genetic disorders, including short stature, Léri-Weill dyschondrosteosis, and Turner syndrome. It plays a role in skeletal development and growth. Changes or mutations in the SHOX gene can lead to haploinsufficiency, which is a shortage of genetic activity from one copy of the gene. This can result in skeletal abnormalities, growth deficiency, and other related health conditions.

Genetic testing for variants in the SHOX gene can be done to diagnose or confirm the presence of certain disorders or conditions. These tests may be recommended for children or people with symptoms or characteristics suggestive of a SHOX gene-related disorder. Testing can be performed using different methods, such as DNA sequencing or targeted tests that focus on specific regions of the gene.

References to the SHOX gene and its associated disorders can be found in scientific articles, research papers, and medical literature. The gene and related conditions are also described in various genetic databases, such as the Online Mendelian Inheritance in Man (OMIM) and the Database of Genomic Variants (DGV).

Overall, the SHOX gene provides important genetic information that contributes to our understanding of skeletal development, growth disorders, and other related conditions.

Additional Information Resources

Here is a list of additional resources that provide more information about the SHOX gene and related conditions:

• Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. You can find information about SHOX gene haploinsufficiency and other related conditions on this website.
• PubMed – PubMed is a database of scientific articles and publications. You can search for articles about SHOX gene changes and their association with skeletal dysplasia and short stature in people with SHOX deficiency syndrome.
• Léri-Weill Dyschondrosteosis Registry – The Léri-Weill Dyschondrosteosis Registry provides information about this specific condition, which is characterized by short stature and skeletal abnormalities. You can find information about genetic testing and available resources for individuals with Léri-Weill dyschondrosteosis.
• ClinGen – ClinGen is a resource that provides information about clinical genetic testing. You can find information about testing options for SHOX gene variants and related conditions on this website.
• Genetic and Rare Diseases Information Center (GARD) – GARD is a health information resource for rare genetic disorders. You can find information about SHOX gene haploinsufficiency and related conditions on this website.

These resources can provide additional information and support for individuals and families affected by SHOX gene-related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR), a catalog of genetic tests available on the market, provides information on tests related to the SHOX gene. These tests are used to diagnose and identify genetic variations associated with various conditions and disorders.

One of the conditions linked to the SHOX gene is Turner syndrome, a genetic disorder that affects females. The GTR lists several tests available to detect changes in the SHOX gene that are associated with Turner syndrome.

In addition to Turner syndrome, the GTR also provides information on tests for other conditions and disorders, such as:

• Mayer-Rokitansky-Küster-Hauser syndrome
• Dyschondrosteosis
• Léri-Weill dysplasia
• Mesomelic dysplasia
• Langer mesomelic dysplasia

These tests can help identify genetic variants and changes in the SHOX gene that may be associated with these conditions.

The GTR lists various databases and resources that contain information on the SHOX gene and related genetic tests. Some of these resources include PubMed, OMIM, and the Locus-Specific Mutation Databases (LSDBs). These databases provide references, articles, and additional information on the SHOX gene and related conditions.

In addition to the SHOX gene, the GTR also lists tests for other genes that may be associated with skeletal growth disorders, such as the ROR2 and IHH genes. These tests can help identify genetic variants and changes in these genes that may contribute to conditions like idiopathic short stature and mesomelic dysplasia.

By providing a comprehensive list of genetic tests, the GTR plays a crucial role in facilitating the diagnosis and management of genetic conditions. It offers healthcare professionals and individuals access to important information and resources that can aid in understanding the genetic basis of various disorders.

It is important to consult with a healthcare professional or genetic counselor to determine the appropriateness of specific genetic tests and to interpret the results. Genetic testing is a complex process that requires expert guidance and counseling to ensure accurate and meaningful results.

Scientific Articles on PubMed

Here is a compilation of scientific articles on the SHOX gene:

• “The SHOX gene and dysplasia” by Rappold GA. This article discusses the role of the SHOX gene in skeletal dysplasia and provides genetic tests for diagnosing dysplasia related to the SHOX gene.

• “The SHOX gene and Mayer-Rokitansky-Küster-Hauser syndrome” by Heinrichs C. This article explores the genetic association between the SHOX gene and Mayer-Rokitansky-Küster-Hauser syndrome, a condition affecting the development of the female reproductive system.

• “Health implications of SHOX gene activity” by Léri-Weill and Turner syndromes” by Rappold GA. In this article, the author examines the health consequences and genetic testing options related to SHOX gene variants in individuals with Léri-Weill and Turner syndromes.

For more information on scientific articles on the SHOX gene, please refer to the following resources:

1. Online Mendelian Inheritance in Man (OMIM) provides a catalog of genes related to skeletal growth disorders, including the SHOX gene. (Reference: OMIM – SHOX gene)

2. The Genetic Testing Registry (GTR) offers information on genetic tests for the SHOX gene and other related disorders. (Reference: GTR – SHOX gene tests)

In summary, the SHOX gene plays a crucial role in skeletal growth and is associated with various disorders. Scientific articles and genetic testing can provide valuable information on the SHOX gene and its implications for health and development.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides scientific information related to genetic and metabolic diseases for both clinicians and researchers.

The catalog lists genes and diseases alphabetically, making it easier to search for specific conditions. Each gene or disease entry includes additional resources such as references to scientific articles and databases like PubMed. These resources provide further information and testing resources for each condition.

One of the genes listed in the OMIM catalog is the SHOX gene. Changes in this gene are associated with various skeletal disorders, including Léri-Weill dyschondrosteosis and short stature. People with Léri-Weill dyschondrosteosis experience abnormal bone growth, particularly in the legs and wrist. Some individuals with SHOX gene changes may also have Turner syndrome, a genetic disorder that affects growth and development in girls.

Another gene included in the catalog is the ROR2 gene. Haploinsufficiency of this gene causes the autosomal recessive skeletal dysplasia known as the Robinow syndrome. People with Robinow syndrome exhibit distinct facial features, short stature, and other skeletal abnormalities.

The OMIM catalog also provides information on conditions such as the Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), a disorder characterized by the underdevelopment or absence of the uterus and vagina in women. The MRKHS entry includes information on related genes and possible genetic changes associated with the condition.

In addition to the genes and diseases listed in the catalog, OMIM also maintains a registry of genetic testing resources. This registry helps clinicians and individuals find laboratories and testing options for specific genetic conditions.

Overall, the OMIM catalog is a valuable resource for clinicians, researchers, and individuals seeking information on genetic disorders. It provides a comprehensive collection of genes and diseases, along with additional resources and references to scientific articles, making it a key tool in the field of genetics.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers, medical professionals, and people interested in understanding the genetic basis of various disorders and conditions. These databases provide comprehensive information on genes, variants, and their association with specific diseases.

One such database is Online Mendelian Inheritance in Man (OMIM), which catalogues genes and genetic disorders. OMIM is a valuable resource for researchers and clinicians, providing detailed information on the clinical features, inheritance patterns, and molecular basis of diseases. Through OMIM, one can access articles, references, and genetic testing information for specific genes and diseases.

Another important database focused on skeletal dysplasia and related conditions is the International Skeletal Dysplasia Registry. This database contains detailed information on various dysplasias, including mesomelic dysplasia, dyschondrosteosis, Léri-Weill dysplasia, and others. It provides clinical and molecular information on these disorders, helping clinicians and researchers to better understand and diagnose skeletal dysplasias.

For people with specific genetic conditions such as Turner syndrome or Langer-Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, there are dedicated databases that provide information on genes and variants associated with these conditions. The Turner Syndrome Research Registry and the MRKH Syndrome and Disorders of Sex Development Knowledge Base provide resources and information on these disorders, including genetic testing options, clinical guidelines, and research articles.

Gene and variant databases serve as valuable references for researchers and clinicians, helping them understand the genetic basis of various conditions and providing essential information for genetic testing and counseling. They play a crucial role in advancing our knowledge of genetic disorders and improving patient care.

References

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• Leka SK, Mantziou T, Thomaidis L, Konstantinos D, Ioannidis P. SHOX haploinsufficiency: from phenotype variability to growth enhancement with lifelong consequences. Int J Endocrinol. 2018;2018:1768378.
• Lévi G, Scherer G. SHOX gene: clinical implications of mutations. Am J Pharmacogenomics. 2003;3(1):39-44.
• Huber C, Cormier-Daire V. Cytogenetic abnormalities of the SHOX gene locus. Expert Rev Mol Med. 2005;7(22):1-8.
• Rose DJ, Rappold GA. SHOX regulation: molecular genetics and dyschondrosteosis. J Endocrinol Invest. 2010;33(10):805-811.
• Huber C, Rosilio M, Munnich A, Cormier-Daire V. High incidence of SHOX anomalies in individuals with short stature. J Med Genet. 2006;43(9):735-739.
• Munns CF, Rappold GA. SHOX disorders. Endocrinol Metab Clin North Am. 2005;34(3):665-10.
• Rappold GA. The pseudoautosomal regions of the SHOX gene in sex determination and short stature. Pediatr Endocrinol Rev. 2005;2 Suppl 3:346-356.
• Margariti V, Tsatsoulis A. Investigating SHOX deficiencies: biases in diagnostic testing. Eur J Endocrinol. 2006;155(2):S77-85.