Gene: DSP

Alternate names for this Gene: DCWHKTA|DP

Gene Summary: This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 6

Location in Chromosome : 6p24.3

Description of this Gene: desmoplakin

Type of Gene: protein-coding

rs397516915 in DSP gene and Arrhythmogenic Right Ventricular Dysplasia PMID 22555271 2012 Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.

PMID 19358943 2009 Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation study.

PMID 23810894 2013 Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.

PMID 16917092 2006 Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 20716751 2010 Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.

PMID 21859740 2011 Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.

PMID 26850880 2016 Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells.

PMID 21606390 2011 Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.

PMID 10594734 1999 Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.

PMID 19279339 2009 A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.

PMID 20864495 2010 Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.

PMID 19095136 2008 Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.

PMID 19558499 2009 Skin and heart: une liaison dangereuse.

PMID 21723241 2011 Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations.

PMID 24070718 2013 Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.

rs1057517903 in DSP gene and Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 20716751 2010 Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.

PMID 25227139 2015 Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 25820315 2015 Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.

PMID 27831900 2016 Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.

PMID 21859740 2011 Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.

PMID 23671136 2013 Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.

PMID 28527814 2017 Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 28442525 2017 Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.

PMID 11063735 2000 Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

PMID 26735901 2016 Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

PMID 16061754 2005 Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy.

PMID 12373648 2002 Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.

PMID 20031617 2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 15941723 2005 Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations.

PMID 23810894 2013 Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.

PMID 16917092 2006 Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 10594734 1999 Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.

PMID 20864495 2010 Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.

PMID 19095136 2008 Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.

PMID 19279339 2009 A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.

PMID 24070718 2013 Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.

PMID 25616645 2015 Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.

PMID 26187847 2015 Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

rs730880092 in DSP gene and Cardiomyopathies PMID 19924139 2010 Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.

rs1057517903 in DSP gene and Cardiomyopathy dilated with Woolly hair and keratoderma PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 25227139 2015 Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.

PMID 20716751 2010 Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.

PMID 25820315 2015 Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.

PMID 27831900 2016 Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.

PMID 28442525 2017 Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.

PMID 21859740 2011 Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 23671136 2013 Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.

PMID 28527814 2017 Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.

PMID 11063735 2000 Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

PMID 26735901 2016 Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

PMID 16061754 2005 Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy.

PMID 23810894 2013 Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.

PMID 16917092 2006 Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 19095136 2008 Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.

PMID 20864495 2010 Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.

PMID 10594734 1999 Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.

PMID 24070718 2013 Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.

PMID 19279339 2009 A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.

PMID 25616645 2015 Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.

PMID 26187847 2015 Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

rs397516943 in DSP gene and Cardiomyopathy, Dilated PMID 26850880 2016 Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 23810894 2013 Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.

PMID 25616645 2015 Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.

PMID 28588093 2017 Implantable Cardioverter-Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications.

PMID 16917092 2006 Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 11063735 2000 Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

PMID 16467215 2006 Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.

PMID 21859740 2011 Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.

PMID 20716751 2010 Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.

PMID 21606390 2011 Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.

PMID 19095136 2008 Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.

PMID 10594734 1999 Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.

PMID 20864495 2010 Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.

PMID 19558499 2009 Skin and heart: une liaison dangereuse.

PMID 19279339 2009 A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.

rs2076295 in DSP gene and Chronic Obstructive Airway Disease PMID 28166215 2017 Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis.

PMID 30804561 2019 Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.

rs2076295 in DSP gene and Idiopathic Pulmonary Fibrosis PMID 29066090 2017 Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry: a genome-wide association study.

rs746877365 in DSP gene and Long QT Syndrome 1 PMID 21606390 2011 Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.

PMID 19095136 2008 Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity.

PMID 19279339 2009 A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.

PMID 25163546 2015 Atlas of the clinical genetics of human dilated cardiomyopathy.

PMID 21606396 2011 Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study.

PMID 25225338 2014 Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin-EB1 interactions.

PMID 25820315 2015 Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members.

PMID 30382575 2019 Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.

rs10484326 in DSP gene and Lung Diseases, Interstitial PMID 23583980 2013 Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.

rs2744375 in DSP gene and RESTING HEART RATE PMID 27798624 2016 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.

rs28931610 in DSP gene and Skin Fragility-Woolly Hair Syndrome PMID 11841538 2002 Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.

rs2076295 in DSP gene and Vital capacity PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.