Reviewed April 2011
What is the official name of the DYSF gene?
The official name of this gene is “dysferlin.”
DYSF is the gene's official symbol. The DYSF gene is also known by other names, listed below.
What is the normal function of the DYSF gene?
The DYSF gene provides instructions for making a protein called dysferlin. The specific function of this protein is not well understood. It is believed to be involved in repairing damage to muscle cells. It may help fuse gaps in muscle cell membranes by interacting with other molecules, including proteins called calpain-3 and caveolin-3. Researchers suggest that dysferlin may also be involved in the maturation of new muscle fibers (regeneration).
How are changes in the DYSF gene related to health conditions?
- limb-girdle muscular dystrophy - caused by mutations in the DYSF gene
More than 300 mutations in the DYSF gene that can cause limb-girdle muscular dystrophy type 2B have been identified. Limb-girdle muscular dystrophy is a group of related disorders characterized by muscle weakness and wasting, particularly in the shoulders, hips, thighs, and upper arms. Muscle problems caused by DYSF gene mutations, such as limb-girdle muscular dystrophy type 2B, are called dysferlinopathies.
DYSF gene mutations may disrupt the function of the dysferlin protein, interfering with the muscle repair process. Studies suggest that inefficient repair of damaged muscle fibers may lead to inflammation and degeneration of muscles, resulting in muscle weakness.
- other disorders - caused by mutations in the DYSF gene
DYSF gene mutations also cause other dysferlinopathies called Miyoshi distal myopathy and distal myopathy with anterior tibial onset. In contrast with limb-girdle muscular dystrophy, in which muscle weakness is most severe in the muscles close to the center of the body (proximal muscles), the muscle weakness in these dysferlinopathies is more severe in muscles farther from the center of the body (distal muscles). In Miyoshi distal myopathy and distal myopathy with anterior tibial onset, the effects are most apparent in the muscles of the lower legs.
Miyoshi distal myopathy involves calf muscle weakness, which may make it difficult to stand on tiptoe. The muscle weakness in Miyoshi distal myopathy progresses slowly; it may eventually affect the thighs and cause difficulty walking. Some researchers consider Miyoshi distal myopathy to be a variant of limb-girdle muscular dystrophy rather than a separate disorder.
Distal myopathy with anterior tibial onset first becomes apparent in a muscle called tibialis anterior, which is located at the front of the lower leg and is involved in flexing the foot. This dysferlinopathy progresses more quickly to muscles of the upper leg than does Miyoshi distal myopathy, and affected individuals eventually require wheelchair assistance.
Where is the DYSF gene located?
Cytogenetic Location: 2p13.3
Molecular Location on chromosome 2: base pairs 71,453,293 to 71,686,762
The DYSF gene is located on the short (p) arm of chromosome 2 at position 13.3.
More precisely, the DYSF gene is located from base pair 71,453,293 to base pair 71,686,762 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about DYSF?
You and your healthcare professional may find the following resources about DYSF helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1303/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for DYSF (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8291%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((DYSF%5BTIAB%5D)%20OR%20(dysferlin%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog
- DYSFERLIN (http://omim.org/entry/603009)
- MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET (http://omim.org/entry/606768)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_DYSF.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=8291)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=3097)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8291)
What other names do people use for the DYSF gene or gene products?
- dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
- dystrophy-associated fer-1-like 1
- fer-1-like protein 1
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding DYSF?
autosomal recessive ;
muscular dystrophy ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Bansal D, Campbell KP. Dysferlin and the plasma membrane repair in muscular dystrophy. Trends Cell Biol. 2004 Apr;14(4):206-13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15066638?dopt=Abstract)
- Broglio L, Tentorio M, Cotelli MS, Mancuso M, Vielmi V, Gregorelli V, Padovani A, Filosto M. Limb-girdle muscular dystrophy-associated protein diseases. Neurologist. 2010 Nov;16(6):340-52. doi: 10.1097/NRL.0b013e3181d35b39. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21150381?dopt=Abstract)
- Chiu YH, Hornsey MA, Klinge L, Jørgensen LH, Laval SH, Charlton R, Barresi R, Straub V, Lochmüller H, Bushby K. Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. Hum Mol Genet. 2009 Jun 1;18(11):1976-89. doi: 10.1093/hmg/ddp121. Epub 2009 Mar 13. (http://www.ncbi.nlm.nih.gov/pubmed/19286669?dopt=Abstract)
- Glover L, Brown RH Jr. Dysferlin in membrane trafficking and patch repair. Traffic. 2007 Jul;8(7):785-94. Epub 2007 Jun 5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17547707?dopt=Abstract)
- Han R, Campbell KP. Dysferlin and muscle membrane repair. Curr Opin Cell Biol. 2007 Aug;19(4):409-16. Epub 2007 Jul 26. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17662592?dopt=Abstract)
- Klinge L, Aboumousa A, Eagle M, Hudson J, Sarkozy A, Vita G, Charlton R, Roberts M, Straub V, Barresi R, Lochmüller H, Bushby K. New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):946-53. doi: 10.1136/jnnp.2009.178038. Epub 2009 Jun 14. (http://www.ncbi.nlm.nih.gov/pubmed/19528035?dopt=Abstract)
- Krahn M, Béroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I, Ollagnon-Roman E, Bevilacqua JA, Salvo E, Attarian S, Chapon F, Pellissier JF, Pouget J, Hammouda el H, Laforêt P, Urtizberea JA, Eymard B, Leturcq F, Lévy N. Analysis of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat. 2009 Feb;30(2):E345-75. doi: 10.1002/humu.20910. (http://www.ncbi.nlm.nih.gov/pubmed/18853459?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8291)
- OMIM: DYSFERLIN (http://omim.org/entry/603009)
- Paradas C, Llauger J, Diaz-Manera J, Rojas-García R, De Luna N, Iturriaga C, Márquez C, Usón M, Hankiewicz K, Gallardo E, Illa I. Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. Neurology. 2010 Jul 27;75(4):316-23. doi: 10.1212/WNL.0b013e3181ea1564. Epub 2010 Jun 23. (http://www.ncbi.nlm.nih.gov/pubmed/20574037?dopt=Abstract)
- Straub V, Bushby K. The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol. 2006 Jun;13(2):104-14. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17027860?dopt=Abstract)
- Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N. Dysferlinopathies. Neurol India. 2008 Jul-Sep;56(3):289-97. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18974555?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.