|
Adenocarcinoma
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Loss of Dsc2 (8/19) and de novo expression of Dsc1 (11/19) and Dsc3 (6/19) was also found in colorectal adenocarcinomas on a background of colitis.
|
17088906 |
2006 |
|
Alopecia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Recent desmosomal genodermatoses described include lethal congenital epidermolysis bullosa (plakoglobin), cardiomyopathy with alopecia and palmoplantar keratoderma (plakoglobin), hypotrichosis with scalp vesicles (desmocollin 3), and generalized peeling skin disease (corneodesmosin).
|
21929534 |
2012 |
|
Alopecia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive forms of hair loss (alopecia) disorders have previously been associated with variants in at least five different genes including hairless (HR), desmoglein-4 (DSG4), desmocollin-3 (DSC3), lipase-H (LIPH), and lysophosphatidic acid receptor 6 (LPAR6).
|
26148547 |
2015 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
For the first time, we have identified mutations in desmocollin-2 in patients with ARVD/C, a finding that is consistent with the hypothesis that ARVD/C is a disease of the desmosome.
|
17033975 |
2006 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Reduced cardiac desmoglein-2 and desmocollin-2 levels appear to be specifically associated with ARVD/C, independent of underlying mutations.
|
24086444 |
2013 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
DNA sequencing revealed that each individual was heterozygous for two rare variants in the PKP2 and DSC2 genes, both of which were previously shown to be associated with ARVD and to encode desmosomal proteins, i.e. the previously reported splicing variant c2489 + 1A > G in the PKP2 gene and the novel p.I109M variant in the DSC2 gene.
|
21822014 |
2011 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in DSG2 and DSC2 are together less prevalent (10%) than PKP2 mutations (40%) in Dutch TFC+ ARVD/C patients.
|
20031616 |
2009 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.
|
31333075 |
2019 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We present a case of arrhythmogenic right ventricular cardiomyopathy that cosegregates in a Lebanese family with a previously unreported desmocollin-2 mutation (c.712_714delGAT).
|
24793512 |
2014 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy.
|
20197793 |
2010 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in DSP, JUP, PKP2, DSG2 and DSC2, encoding desmosomal proteins desmoplakin, plakoglobin, plakophilin 2 (PKP2), desmoglein 2 (DSG2), and desmocollin 2 (DSC2), respectively, cause ARVC.
|
20124997 |
2010 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Identification of additional DSC2 mutations associated with ARVC may result in increased diagnostic accuracy with implications for genetic counseling.
|
17963498 |
2007 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We genotyped a cohort of 22 ARVC patients referred to molecular genetic screening in our heart center for mutations in the desmosomal candidate genes JUP, DSG2, DSC2, DSP and PKP2 known to be associated with ARVC.
|
20829228 |
2010 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These data identify DSC2 mutations as a cause of ARVC in humans and demonstrate that physiologic levels of DSC2 are crucial for normal cardiac desmosome formation, early cardiac morphogenesis, and cardiac function.
|
17186466 |
2006 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our study not only expands the spectrum of DSC2 mutations and contributes to genetic counseling of families with ARVC but also improves the awareness of pathogenesis in Chinese patients with ARVC.
|
28256248 |
2017 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Therefore, the two site variants in DSC2 and DSP genes are likely to become a new research focus for diagnosis and treatment of ARVC in the future.
|
31484862 |
2019 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Early and accurate diagnosis can be crucial in effective ARVC management and prevention of SCD.The genome Aggregation Database (gnomAD) population of 138,632 unrelated individuals was searched for previously identified ARVC variants, classified as pathogenic or unknown on the disease genetic variant database ( http://www.arvcdatabase.info/ ), in five most-commonly mutated genes: PKP2, DSP, DSG2, DSC2 and JUP, where variants account for 40-50% of all the ARVC cases.
|
29802319 |
2018 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Desmoglein-2 (DSG2), desmocollin-2, and N-cadherin proteins on western blots were exposed to sera, in primary and validation cohorts of subjects and controls, as well as the naturally occurring Boxer dog model of ARVC.
|
30239670 |
2018 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This is the first reported case of a mutation in desmocollin-2 associated with autosomal recessive ARVC.
|
18957847 |
2009 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
|
19863551 |
2010 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.
|
26743238 |
2016 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
These data identify DSC2 mutations as a cause of ARVC in humans and demonstrate that physiologic levels of DSC2 are crucial for normal cardiac desmosome formation, early cardiac morphogenesis, and cardiac function.
|
17186466 |
2006 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.
|
21062920 |
2011 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Mechanistic basis of desmosome-targeted diseases.
|
23911551 |
2013 |
|
Arrhythmogenic Right Ventricular Dysplasia
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
These data identify DSC2 mutations as a cause of ARVC in humans and demonstrate that physiologic levels of DSC2 are crucial for normal cardiac desmosome formation, early cardiac morphogenesis, and cardiac function.
|
17186466 |
2006 |