Case Report: Bi-Allelic Missense Variant in the Desmocollin 3 Gene Causes Hypotrichosis and Recurrent Skin Vesicles

    August 2022 in “ Frontiers in genetics ”
    Khalid Al Hawsawi, Mazin Al Jabri, Mazen S. Dajam, Bashaer Almahdi, Waseem K. Alhawsawi, Safdar Abbas, Abeer Al Tuwaijri, Muhammad Umair, Majid Alfadhel, Sultan Al‐Khenaizan
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    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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