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Πέμπτη 13 Απριλίου 2017

A novel link between keratoderma and cardiomyopathy: Contiguous gene deletion involving the desmoglein gene cluster

Abstract

Desmocollin and desmoglein proteins are important in intercellular adhesion in both the skin and the heart.1 Heterozygous mutations in desmocollin 2 (DSC2)2 and desmoglein 2 (DSG2)3 can both result in desmosomal dysfunction in cardiomyocytes, leading to development of fibro-fatty tissue, termed arrythmogenic right ventricular cardiomyopathy (ARVC). Heterozygous truncating mutations in desmoglein 1 (DSG1), an intervening gene, can present as a striate palmoplantar keratoderma, whilst homozygous DSG1 mutations can cause severe dermatitis, allergies and metabolic wasting.4 Unlike mutations in plakoglobins and desmoplakins that affect both tissues, the desmogleins, desmocollins and plakophillins typically affect either skin or heart.1 Here we present a patient with a novel heterozygous deletion resulting in loss of a 2.6Mb region including DSC2, DSG2 and DSG1, associated with ARVC and keratoderma (Fig. 1).

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