DSC3 Gen

The DSC23 gene (DSC3 stands for: Desmocollin 3) is a protein-coding gene localized on chromsome 18q12.1.

Diseases associated with DSC3 include: "Hypotrichosis and Recurrent Skin Vesicles (HYPTSV/OMIM: 613102)" a skin fragility syndrome (see also for comparison under Skin fragility syndrome with woolly hair and palmoplantar keratoses) and Sneddon-Wilkinson subcorneal pustular dermatosis. Onoufriadis et al (2020) reported on a five-year-old Egyptian boy who had normal skin at birth but began to develop blisters on his hands, feet, knees and trauma sites at the age of four. He had no hair on his head at birth; although the hair grew in infancy, it was always sparse and easy to pull out. Trauma-related blisters and crusted erosions were present on his hands, knees, legs and feet. The scalp hair and eyebrows were sparse and thin. Follicular hyperkeratosis was also present on the scalp, trunk and extremities. The patient's skin was dry, the lips cracked with cheilitis angularis. The oral mucosa was O.B. The fingernails were conspicuous for leukonychia and thinning and tearing. Other features were slight thinning and irregular grooves in the enamel. Ultrastructurally, the desmosomes exhibited variable morphology, with some appearing nearly normal while others were small. Cell-cell detachment occurred mostly in the inner desmosomal plaques.

An important paralogous gene is the DSC2 gene.

Antibodies against the encoded protein DSC3 (also against DSC2) can be detected in paraneoplastic pemphigus.

Mutations in the DSC2 gene are associated with arrhythmogenic right ventricular dysplasia-11 (Arrhythmogenic Right Ventricular Dysplasia 11 with Mild Palmoplantar Keratoderma and Woolly Hair) (Simpson MA et al. 2009).

1. Ayub M et al. (2009) A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. Am J Hum Genet 85: 515-520
2. Onoufriadis A et al. (2020) Homozygous nonsense mutation in DSC3 resulting in skin fragility and hypotrichosis. J Invest Derm 140: 1285-1288.
3. Simpson MA et al. (2009) Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology 113: 28-34.
4. Syrris P et al. (2006) Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet 79: 978-984.