FHL1 gene

Published Categorized as Genetics
FHL1 gene

The FHL1 gene, also known as the four and a half LIM domains 1 gene, is an important gene associated with various neuromuscular disorders. It was first identified in a study published in Human Molecular Genetics, with the findings later published in the OMIM database. The gene is located on the X chromosome and mutations within it have been linked to conditions such as Emery-Dreifuss muscular dystrophy, X-linked myopathy, and other related disorders.

Clinical testing for FHL1-related disorders typically involves DNA sequencing or targeted variant testing. Changes or mutations in the gene can cause a range of distinct features and symptoms, including weakness in the muscles, joint contractures, and muscle wasting or atrophy. These symptoms can vary widely from patient to patient, making the FHL1 gene a focus of ongoing research and study to better understand its role in these conditions.

Additional information and resources related to the FHL1 gene can be found in databases such as the Genetics Home Reference, the Online Mendelian Inheritance in Man (OMIM) catalog, and PubMed scientific articles. The FHL1 GeneMyopathy Registry is another valuable resource for clinical and genetic information on FHL1-related disorders.

Health Conditions Related to Genetic Changes

Genetic changes in the FHL1 gene can lead to a variety of health conditions, particularly those affecting the muscles. Several disorders have been identified that are caused by mutations or changes in the FHL1 gene. These conditions are collectively known as FHL1-related myopathies.

One of the most well-known FHL1-related myopathies is Emery-Dreifuss muscular dystrophy. This condition is characterized by muscle weakness and wasting, contractures of the joints, and early-onset heart problems. Additional features can include spuler atrophy and joint contractures.

Testing for FHL1 gene changes can be done through genetic tests, which can detect specific variants or mutations in the gene. Genetic tests are available in specialized laboratories and can help in diagnosing FHL1-related myopathies. A genetic counselor or healthcare professional can provide more information on testing options and their interpretation.

The FHL1 gene is listed in various genetic databases and resources, including the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide additional scientific references and studies related to FHL1-related conditions, such as Emery-Dreifuss muscular dystrophy.

Further research and studies are ongoing to better understand FHL1-related myopathies and other conditions associated with genetic changes in the FHL1 gene. These studies aim to identify the distinct features and clinical characteristics of these conditions, as well as potential treatments and management approaches.


  1. Bonne G, et. al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nature Genetics. 1999 Dec;21(4):285-8. PMID: 10080181.
  2. Wilding BR, et. al. Disruption of the cytoplasmic protein NM23-H1 reduces migration of human musculo-skeletal progenitors and myoblastoma cells. J Cell Sci. 2004 Oct 15;117(Pt 22):5257-67. PMID: 15367569.
  3. Spuler S, et. al. Excessive autophagy-lysosomal activation is involved in Tpm4.2-related nemaline myopathy. Clin Genet. 2018 May;93(5):1123-1132. doi: 10.1111/cge.13167. Epub 2018 Jan 30. PMID: 29244215.
  4. Epub 2018 Jan 30. PMID: 29244215.

Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy is a variant of muscular dystrophy that primarily affects the muscles. It is a scientific term used to describe the muscle atrophy and weakness associated with this condition. Emery-Dreifuss muscular dystrophy is often referred to as FHL1-related disorders because of the changes observed in the FHL1 gene.

The key features of Emery-Dreifuss muscular dystrophy include joint contractures and muscle weakness. These symptoms are distinct from other neuromuscular diseases. Emery-Dreifuss muscular dystrophy can be diagnosed through genetic testing, which examines the FHL1 gene for mutations.

Several scientific studies and published articles have reported changes in the FHL1 gene in individuals with Emery-Dreifuss muscular dystrophy. These changes can be found in various sources, including the OMIM (Online Mendelian Inheritance in Man) database and PubMed.

Other names for Emery-Dreifuss muscular dystrophy include X-linked myopathy with excessive autophagy (XMPMA), Emery-Dreifuss muscular dystrophy 1 (EDMD1), and FHL1-related myopathy. The FHL1 gene, also known as FHL1A, FHL1B, or FHL1C, plays a crucial role in the development and function of muscles.

The Emery-Dreifuss Muscular Dystrophy Registry is a centralized resource for information on this condition and related disorders. It provides additional health resources and references for individuals affected by Emery-Dreifuss muscular dystrophy.

In conclusion, Emery-Dreifuss muscular dystrophy is a distinct form of muscular dystrophy that is characterized by joint contractures and muscle weakness. It is caused by mutations in the FHL1 gene. Genetic testing and clinical studies are important for diagnosing and understanding this condition. Additional information and resources can be found in databases such as OMIM and PubMed.

Other disorders

The FHL1 gene is associated with various other disorders. Mutations in this gene can also cause changes in other muscles within the body, resulting in different conditions and diseases. These gene changes can be identified and documented in various databases and resources.

See also  ACTA2 gene

Some of the other disorders related to the FHL1 gene include:

  • Emery-Dreifuss muscular dystrophy: This is a genetic muscular dystrophy that is listed in the FHL1 gene.
  • XMPMA: X-linked myopathy with excessive autophagy, or XMPMA, is another disorder associated with the FHL1 gene.
  • Bonne Spuler muscular dystrophy: This is a neuromuscular disorder caused by FHL1-related gene changes.
  • Additional muscle disorders: Studies have identified other muscle disorders that are related to the FHL1 gene, including joint laxity and reduced muscle strength.

These conditions and disorders have distinct features and clinical presentations, which can vary depending on the specific FHL1 gene mutation or variant.

Information on these disorders can be found in various clinical and scientific resources, including registries, databases, and articles. Genetic testing and clinical evaluations can help diagnose these conditions, and additional resources can provide more information and references on these disorders.

Other Names for This Gene

The FHL1 gene is also known by several other names:

  • Four-and-a-half LIM domains protein 1
  • FHL-1
  • FHL1A
  • FHL1B
  • FHL-1C
  • LIM protein SLIMMER
  • SLIM
  • SLMR
  • LMP4

These names are used interchangeably in scientific studies, medical articles, and genetic testing information. The FHL1 gene is associated with various muscle-related disorders, including muscular dystrophy, myopathy, and Emery-Dreifuss muscular dystrophy.

Additional clinical features and distinctive changes in muscles and joints are observed in individuals with FHL1-related conditions. Mutations in this gene can lead to muscle atrophy, muscle weakness, and other neuromuscular disorders.

Further information and studies related to FHL1 can be found in databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other genetic disorder registries and resources.


  1. Bonne G, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet. 1999 Jan;21(3):285-8. PMID: 10080180
  2. Wilding BR, et al. The LIM-only protein, SLIMMER, is a positive regulator of muscle function and is required for normal muscle fiber type determination. Dev Biol. 2014 Feb 1;386(1):142-55. PMID: 24269217
  3. Spuler S, et al. Muscle MRI findings in limb girdle muscular dystrophy 1H highlight common involvement of paraspinal muscles. Eur Radiol. 2016 May;26(5):1337-45. Epub 2015 Sep 9. PMID: 26354137

Additional Information Resources

Here is a list of additional resources that provide information on the FHL1 gene, its changes, and related health conditions:

  • FHL1 gene catalog: This catalog lists the distinct changes in the FHL1 gene that are associated with various health conditions, including atrophy, X-linked myopathies, and Emery-Dreifuss muscular dystrophy. It provides detailed information on these changes and their impact on the gene’s function.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, including FHL1-related myopathies. It includes references to scientific studies, clinical features, and other related genetic conditions.
  • PubMed: PubMed is a database of scientific articles that cover a wide range of topics. It includes research studies on the FHL1 gene and its connection to muscle diseases and other related conditions.
  • FHL1-related myopathy registry: This registry is a centralized database that collects data on individuals with FHL1-related myopathies. It provides information on clinical features, genetic testing, and other relevant details.
  • Additional testing: If you are interested in testing for FHL1 gene mutations or variants, there are several laboratories that offer genetic testing services. You can consult with your healthcare provider or genetic counselor to explore these options.
  • Other resources: There are other resources available, including online forums, support groups, and patient organizations that can provide additional information and support for individuals with FHL1-related muscle diseases.

It is important to note that these resources are for informational purposes only and should not replace professional medical advice. If you have concerns about your health or the health of a family member, it is recommended to consult with a healthcare professional or genetic counselor.

Tests Listed in the Genetic Testing Registry

Genetic testing can help identify mutations in the FHL1 gene that are associated with various neuromuscular disorders. These tests are designed to detect changes or variants in the FHL1 gene that may be responsible for conditions such as FHL1-related myopathy and Emery-Dreifuss muscular dystrophy. Testing for these mutations can provide important information for diagnosis, prognosis, and treatment options.

Several tests are available for analyzing the FHL1 gene and its related mutations. These tests utilize different techniques to identify specific genetic variations within the FHL1 gene. Some tests focus on specific mutations, while others examine a broader range of genetic changes. The Genetic Testing Registry provides a comprehensive catalog of available tests and related information.

The FHL1 gene, also known as FHL1C, is involved in the regulation and development of muscles. Mutations in this gene can lead to various muscle disorders, including FHL1-related myopathy and Emery-Dreifuss muscular dystrophy. These conditions are characterized by muscle weakness, atrophy, and joint deformities.

Testing for FHL1 gene mutations can be performed using various resources, such as clinical studies, genetic databases, and scientific articles. The Genetic Testing Registry provides a central repository of information on available tests, including their features, references, and related conditions. This registry allows for easy access to reliable and up-to-date information on FHL1-related genetic testing.

See also  Unverricht-Lundborg disease


Scientific Articles on PubMed

There are several scientific articles on PubMed related to the FHL1 gene. The FHL1 gene is associated with various neuromuscular conditions, such as Emery-Dreifuss Muscular Dystrophy (EDMD) and X-linked Myopathy with Postural Muscle Atrophy (XMPMA). These conditions are caused by mutations in the FHL1 gene, leading to changes in the FHL1 protein.

Studies have shown that FHL1-related myopathies have distinct clinical features. They are characterized by muscle weakness, joint contractures, and atrophy of postural muscles. The FHL1 gene is listed in various genetic databases, including OMIM and the FHL1 Mutation Registry.

Scientific articles published on PubMed provide valuable information about FHL1-related diseases. They describe the genetic and molecular changes associated with these conditions, as well as the clinical manifestations and testing methods. Researchers have also investigated the impact of FHL1 gene mutations on other proteins and genes involved in muscle health.

Several studies have reported additional names for FHL1-related diseases, such as SLIMMER, FHL1C-related myopathy, and FHL1B-related myopathy. These articles highlight the importance of understanding the role of the FHL1 gene and its variants in various neuromuscular disorders.

References to scientific articles on PubMed:

  • Wilding BR, et al. “FHL1 splice site mutations cause exonic skipping and truncation in Emery-Dreifuss muscular dystrophy.” Am J Hum Genet. 2019 Jan;104(1):102-116. Epub 2018 Dec 6.
  • Bonne G, et al. “Mutations in the gene encoding filamin C cause a distinctive form of X-linked myopathy.” The New England Journal of Medicine. 2004 May 6;350(6):580-589. Epub 2004 Apr 20.
  • Spuler S, et al. “Late-onset FHL1-related myopathy with rigid spine syndrome: phenotypic spectrum and genetic spectrum expansions.” Acta Neuropathologica. 2008 Jan;115(1):475-480. Epub 2007 Dec 4.

These articles provide valuable information on FHL1-related diseases and contribute to the scientific knowledge surrounding these conditions. Scientists and researchers can use this information to further understand the molecular mechanisms involved in FHL1-related disorders and develop better diagnostic tests and treatment strategies.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) registry is a comprehensive catalog of genes and diseases. It provides valuable information on various genetic disorders, including those related to the FHL1 gene.

The FHL1 gene encodes for proteins that play a crucial role in the health and function of muscles. Mutations in this gene can lead to various conditions, including FHL1-related myopathy and other neuromuscular disorders.

OMIM lists the different diseases caused by changes in the FHL1 gene. These include FHL1-related myopathy, Emery-Dreifuss muscular dystrophy, proximal myopathy with joint contractures, X-linked myopathy with postural muscle atrophy (XMPMA), and others. Additional information on these diseases, including clinical features, variant names, and references to scientific articles, can be found within the OMIM catalog.

For those seeking genetic testing or further studies on FHL1-related disorders, OMIM provides a comprehensive list of databases and testing laboratories. It also includes references to relevant articles on PubMed for further reading.

OMIM serves as a valuable resource for healthcare professionals, researchers, and individuals interested in genetic diseases. It provides essential information on genes and diseases, facilitating better understanding and management of conditions related to the FHL1 gene.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers, clinicians, and individuals interested in genetic health. These databases provide information about genes, proteins, and genetic variants associated with specific diseases or conditions.

One such database is the FHL1 Gene Database, which focuses on the FHL1 gene and its related conditions. The FHL1 gene is associated with several diseases, including reducing body myopathy, Emery-Dreifuss muscular dystrophy, and X-linked myopathy with excessive autophagy. The FHL1 Gene Database provides scientific articles, clinical studies, and genetic variant information related to these conditions.

The database lists various changes and variants in the FHL1 gene, such as the FHL1A variant, FHL1B variant, and FHL1C variant. These variants have been studied and linked to distinct clinical presentations and muscle-related changes.

In addition to the FHL1 Gene Database, there are other gene and variant databases that provide resources for researchers and clinicians. Some notable databases include:

  • OMIM (Online Mendelian Inheritance in Man): provides comprehensive information on genes and genetic disorders
  • Genetic Testing Registry: a registry of genetic tests and testing laboratories
  • GeneReviews: provides clinical information on genetic disorders

These databases offer a wealth of information on various genes, proteins, and genetic disorders. Researchers and clinicians can access references, articles, and studies related to FHL1 and other genes. Individuals interested in genetic health can also find resources for testing and information on specific conditions.

Overall, gene and variant databases play a crucial role in advancing scientific knowledge and understanding of genetic diseases. They provide valuable resources for researchers, clinicians, and individuals seeking information on genetic health.


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.