Table 4. Genetic Causes of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C).
Gene | Locus | OMIM* | Gene Product | Frequency** | Allelic Disorders |
---|---|---|---|---|---|
AUTOSOMAL DOMINANT ARVD/C | |||||
PKP2 | 12p11 | 602861 | plakophilin-2 | 11-43% | N/A |
DSG2 | 18q12 | 125671 | desmoglein 2 | 12-40% | N/A |
DSP | 6p24 | 125647 | desmoplakin | 6-16% | Carvajal syndrome |
DSC2 | 18q12 | 125645 | desmocollin-2 | Rare | N/A |
JUP | 17q21 | 173325 | junction plakoglobin | Rare | Naxos syndrome |
RYR2 | 1q42 | 180902 | ryanodine receptor 2 | Rare | N/A |
TGFB3 | 14q24 | 190230 | transforming growth factor beta 3 | Rare | N/A |
TMEM43 | 3p25 | 612048 | transmembrane protein 43 | Unknown | N/A |
AUTOSOMAL RECESSIVE ARVD/C | |||||
PKP2 | 12p11 | 602861 | plakophilin-2 | Rare | N/A |
OMIM is Online Mendelian Inheritance in Man, URL: http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim.
These estimates have been generated from primary and available secondary reports. See reference 40 for additional on-line gene-specific genetic testing information.