Gene: DYSF

Alternate names for this Gene: FER1L1|LGMD2B|LGMDR2|MMD1

Gene Summary: The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2p13.2

Description of this Gene: dysferlin

Type of Gene: protein-coding

rs2303597 in DYSF gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121908955 in DYSF gene and Dysferlinopathy PMID 27666772 2016 Dysferlin mutations and mitochondrial dysfunction.

PMID 17698709 2007 Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.

PMID 25574751 2014 Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.

PMID 27641898 2016 Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair.

PMID 22194990 2011 Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

PMID 16100712 2005 Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.

PMID 16087766 2005 The new R1905X DYSF founder mutation produced the 3 possible dysferlinopathy phenotypes without intrafamilial heterogeneity.

PMID 25312915 2014 Identification of splicing defects caused by mutations in the dysferlin gene.

PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

PMID 18853459 2009 Analysis of the DYSF mutational spectrum in a large cohort of patients.

PMID 22246893 2012 An autopsy case of a dysferlinopathy patient with cardiac involvement.

PMID 23243261 2013 Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.

PMID 21816046 2011 Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I.

PMID 12796534 2003 Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.

PMID 26620441 2016 Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy.

PMID 25591676 2015 Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.

PMID 18276788 2008 Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.

PMID 25868377 2015 Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy.

PMID 14678801 2003 Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.

PMID 27821570 2016 Clinical Reasoning: A 30-year-old man with progressive weakness and atrophy.

PMID 21522182 2011 Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.

PMID 22297152 2012 Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy.

PMID 27363342 2017 Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.

PMID 24488599 2014 Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.

PMID 20817457 2010 Evaluation of commercial dysferlin antibodies on canine, mouse and human skeletal muscle.

PMID 23254335 2013 DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.

PMID 16010686 2005 Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.

PMID 26000923 2016 Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle.

PMID 20497525 2010 Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance.

PMID 19528035 2010 New aspects on patients affected by dysferlin deficient muscular dystrophy.

PMID 20544924 2010 Novel diagnostic features of dysferlinopathies.

PMID 25135358 2014 Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

PMID 27647186 2016 Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.

PMID 16891820 2006 Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.

PMID 18294055 2007 Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family.

PMID 19594366 2009 Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR.

PMID 9731526 1998 Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.

PMID 23530687 2013 Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy.

PMID 17070050 2007 Dysferlin expression in monocytes: a source of mRNA for mutation analysis.

PMID 27858744 2015 Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells.

PMID 27602406 2016 The Clinical Outcome Study for dysferlinopathy: An international multicenter study.

PMID 26404900 2015 ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

PMID 27447704 2017 Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

PMID 11053681 2000 Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).

PMID 25821721 2019 Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement.

PMID 17825554 2007 Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene.

PMID 19084402 2009 A new phenotype of dysferlinopathy with congenital onset.

PMID 18832576 2008 Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 25783436 2016 Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.

PMID 25493284 2014 A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.

PMID 15469449 2004 Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.

PMID 22616201 2011 Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis.

PMID 26916285 2016 Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy.

PMID 28403181 2017 Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.

PMID 27229680 2016 The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes.

PMID 17562833 2007 Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.

PMID 9731527 1998 A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.

PMID 10825360 2000 Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.

rs56988800 in DYSF gene and Electrocardiogram: P-R interval PMID 24324551 2013 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.

rs12479238 in DYSF gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs1057516051 in DYSF gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B PMID 27602406 2016 The Clinical Outcome Study for dysferlinopathy: An international multicenter study.

PMID 23406536 2013 Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial.

PMID 17185750 2007 AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration.

PMID 9731526 1998 Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.

PMID 19084402 2009 A new phenotype of dysferlinopathy with congenital onset.

PMID 18853459 2009 Analysis of the DYSF mutational spectrum in a large cohort of patients.

PMID 18306167 2008 Dysferlin-deficient muscular dystrophy features amyloidosis.

PMID 27666772 2016 Dysferlin mutations and mitochondrial dysfunction.

PMID 10196377 1999 Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).

PMID 15469449 2004 Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.

PMID 14678801 2003 Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.

PMID 16996541 2006 Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions.

PMID 16705711 2006 Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.

PMID 17287450 2007 Symptomatic dysferlin gene mutation carriers: characterization of two cases.

PMID 16100712 2005 Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.

PMID 11134403 2000 Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.

PMID 16010686 2005 Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.

PMID 27647186 2016 Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.

PMID 20544924 2010 Novel diagnostic features of dysferlinopathies.

PMID 11468312 2001 Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.

PMID 27641898 2016 Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair.

PMID 21522182 2011 Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.

PMID 15835269 2005 Dysferlin interacts with affixin (beta-parvin) at the sarcolemma.

PMID 16087766 2005 Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

PMID 20558759 2010 Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression.

PMID 22297152 2012 Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy.

PMID 23185377 2012 Dysferlin-peptides reallocate mutated dysferlin thereby restoring function.

PMID 22057634 2011 Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release.

PMID 27229680 2016 The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes.

PMID 28403181 2017 Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.

PMID 25591676 2015 Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.

PMID 23243261 2013 Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.

PMID 25312915 2014 Identification of splicing defects caused by mutations in the dysferlin gene.

PMID 24488599 2014 Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.

PMID 11532985 2001 The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

PMID 12796534 2003 Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.

PMID 26088049 2016 Respiratory and cardiac function in japanese patients with dysferlinopathy.

PMID 27066573 2015 Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.

PMID 18832576 2008 Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset.

PMID 18276788 2008 Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.

PMID 25868377 2015 Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy.

PMID 19528035 2010 New aspects on patients affected by dysferlin deficient muscular dystrophy.

PMID 19493611 2009 Novel DYSF mutations in Thai patients with distal myopathy.

PMID 25900324 2016 Toward an objective measure of functional disability in dysferlinopathy.

PMID 17897828 2008 Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.

PMID 27363342 2017 Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.

PMID 17070050 2007 Dysferlin expression in monocytes: a source of mRNA for mutation analysis.

PMID 26000923 2016 Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle.

PMID 26404900 2015 ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

PMID 12471055 2002 Gene expression profiling in dysferlinopathies using a dedicated muscle microarray.

PMID 17828519 2007 Dysfunction of dysferlin-deficient hearts.

PMID 26806107 2016 Replacement of arginine in position 959 by tryptophan has been frequently associated with both LGMD2B and MM, but the molecular mechanisms by which this mutation alters dysferlin function remain unknown.

PMID 22194990 2011 Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

PMID 17994539 2008 Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.

PMID 26579332 2015 Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair.

PMID 22318734 2012 Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells.

PMID 23519732 2013 Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected].

PMID 25591678 2015 Mycophenolate mofetil in the treatment of multiple sclerosis: a preliminary report.

PMID 25493284 2014 A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.

PMID 16891820 2006 Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.

PMID 17698709 2007 Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.

PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

PMID 18294055 2007 Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family.

PMID 26671124 2015 Dysferlinopathy in Iran: Clinical and genetic report.

PMID 25987458 2015 A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.

PMID 11053681 2000 Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).

PMID 26060040 2016 Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.

PMID 2764718 1989 Testicular atrophy and loss of nerve growth factor-immunoreactive germ cell line in rats exposed to n-hexane and a protective effect of simultaneous exposure to toluene or xylene.

PMID 15827562 2005 Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display.

PMID 28104817 2017 Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy.

PMID 26436962 2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

PMID 17331981 2007 Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II).

PMID 17562833 2007 Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.

PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 20535123 2010 Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.

PMID 23530687 2013 Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy.

PMID 19154541 2009 Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study.

PMID 26273692 2015 Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides.

PMID 30564623 2018 Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

rs121908954 in DYSF gene and Miyoshi Muscular Dystrophy 1 PMID 17287450 2007 Symptomatic dysferlin gene mutation carriers: characterization of two cases.

PMID 16100712 2005 Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.

PMID 15515206 2004 Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy.

PMID 11134403 2000 Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy.

PMID 16010686 2005 Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.

PMID 18306167 2008 Dysferlin-deficient muscular dystrophy features amyloidosis.

PMID 15116377 2004 Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy.

PMID 11468312 2001 Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.

PMID 9731526 1998 Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.

PMID 10196377 1999 Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s).

PMID 15477515 2004 Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy.

PMID 18853459 2009 Analysis of the DYSF mutational spectrum in a large cohort of patients.

PMID 12796534 2003 Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.

PMID 11959863 2002 Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains.

PMID 15469449 2004 Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.

PMID 25313375 2014 Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

PMID 17287450 2007 He had two sons with Miyoshi myopathy with a homozygous mutation (G519R).

rs140108514 in DYSF gene and Miyoshi myopathy PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

rs6741336 in DYSF gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.