Coincidence of ANKRD1, TMEM43and PKP2 mutations in patient withARVD
2014
Arrhythmogenic right ventricular dysplasia (ARVD) is a serious
genetic disorder, usually with autosomal dominant inheritance,
which can lead to sudden cardiac death in young individuals and
athletes. The genes known to be associated with ARVD are five
genes for desmosome proteins plus another three for
non-desmosomal proteins. Here we present a patient with serious
symptoms of ARVD (including ventricular tachycardia and sudden
cardiac arrest), who carries three potentially pathological
mutations in three diffe rent genes. Two missense mutations in
ANKRD1 and TMEM43 gene respectively and one mutation, in PKP2,
which causes aberrant splicing were detected. We hypothesized
that the combination of these three pathological mutations
could be the reason for the lethal course of the disease.
Moreover, we assume that mutations in ANKRD1 gene, which were
previously shown to be responsible for dilated cardiomyopathy
and hypertrophic cardiomyopathy, could be associated also with
ARVD.
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