| Autor: |
Hawsawi, Khalid Al, Jabri, Mazin Al, Dajam, Mazen S., Almahdi, Bashaer, Alhawsawi, Waseem K., Abbas, Safdar, Tuwaijri, Abeer Al, Umair, Muhammad, Alfadhel, Majid, Al-Khenaizan, Sultan |
| Předmět: |
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| Zdroj: |
Frontiers in Genetics; 8/17/2022, Vol. 13, p1-8, 8p |
| Abstrakt: |
Background: Hypotrichosis with Recurrent Skin Vesicles (HYPTSV) is an extremely rare condition, having autosomal recessive inheritance. Here in we report a 4-years- old Saudi boy who presented with a history of recurrent skin blisters that are localized to the extremities and hypotrichosis since birth. Methods: The present study describes a consanguineous Saudi family segregating HYPTSV in an autosomal recessive fashion. A single proband (II-1) exhibited features such as diffused non-scarring alopecia on the scalp, intraepidermal blister, postinflammatory hyperpigmented macules, and follicular hyperkeratosis. DNA of the index was subjected to whole-genome sequencing (WGS). Furthermore, 3D protein modeling was performed for the mutated and normal protein. Results: WGS revealed a novel bi-allelic missense variant (c.154G>C; p. Val52Leu) in the DSC3 gene, which segregated perfectly using Sanger sequencing. In addition, 3D protein modeling revealed a substantial change in the mutated DSC3 protein as compared to the normal DSC3 protein. Conclusion: This is the 3rd novel variant reported in the DSC3 gene associated with the HYPTSV phenotype. This report further strengthens the evidence that bi-allelic variants in the DSC3 cause severe HYPTSV in humans. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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