{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:52:42Z","timestamp":1753890762495,"version":"3.41.2"},"reference-count":20,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,8,17]],"date-time":"2022-08-17T00:00:00Z","timestamp":1660694400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> 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.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> 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, post-inflammatory 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.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> WGS revealed a novel bi-allelic missense variant (c.154G&amp;gt;C; p. Val52Leu) in the <jats:italic>DSC3<\/jats:italic> 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.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> This is the 3rd novel variant reported in the <jats:italic>DSC3<\/jats:italic> gene associated with the HYPTSV phenotype. This report further strengthens the evidence that bi-allelic variants in the <jats:italic>DSC3<\/jats:italic> cause severe HYPTSV in humans.<\/jats:p>","DOI":"10.3389\/fgene.2022.994509","type":"journal-article","created":{"date-parts":[[2022,8,17]],"date-time":"2022-08-17T08:25:01Z","timestamp":1660724701000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles"],"prefix":"10.3389","volume":"13","author":[{"given":"Khalid","family":"Al Hawsawi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mazin","family":"Al Jabri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mazen S.","family":"Dajam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bashaer","family":"Almahdi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Waseem K.","family":"Alhawsawi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Safdar","family":"Abbas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abeer","family":"Al Tuwaijri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Umair","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majid","family":"Alfadhel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sultan","family":"Al-Khenaizan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,8,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"633385","DOI":"10.3389\/fped.2021.633385","article-title":"The leukodystrophy spectrum in Saudi Arabia: Epidemiological, clinical, radiological and genetic data","volume":"9","author":"Alfadhel","year":"2021","journal-title":"Front. 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