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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