Arrhythmogenic Right Ventricular Dysplasia, Familial, 3

Watchlist

(log in to enable)

Retrieved

2019-09-22

Source

Omim

Trials

—

Genes

TGFB3, IFT43

Drugs

—

Interested in hearing about new therapies?

For phenotypic information and evidence of genetic heterogeneity in this disorder, see ARVD1 (107970).

Mapping

The existence of a novel ARVD locus on chromosome 14, in addition to ARVD1 at 14q23-q24, was suggested by study of 3 small families by Severini et al. (1996). The 3 families were of various descent: Italian, Slovenian, and Belgian. There was a cumulative 2-point lod score of 3.26 for D14S252 with no recombination. With multipoint linkage analysis, a maximal cumulative lod score of 4.7 was obtained in a region between D14S252 and D14S257, mapping ARVD3 to 14q12-q22.