TLDR A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
A 4-year-old Saudi boy with Hypotrichosis with Recurrent Skin Vesicles (HYPTSV), a rare autosomal recessive condition, was studied. He exhibited symptoms like non-scarring alopecia, skin blisters, hyperpigmented macules, and follicular hyperkeratosis. Whole-genome sequencing (WGS) of the patient's DNA identified a novel bi-allelic missense variant (c.154G>C; p. Val52Leu) in the DSC3 gene. This variant was confirmed through Sanger sequencing and was found to cause significant structural changes in the DSC3 protein upon 3D modeling. This discovery marks the third novel variant in the DSC3 gene linked to HYPTSV, reinforcing the gene's role in the condition.
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