{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T13:38:09Z","timestamp":1770989889492,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,3,19]],"date-time":"2022-03-19T00:00:00Z","timestamp":1647648000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>DST<\/jats:italic> encodes bullous pemphigoid antigen\u20101 (BPAG1), a protein with eight tissue\u2010specific isoforms expressed in the skin, muscle, brain and nerves. Accordingly, mutations in this gene are associated with epidermolysis bullosa simplex (EBS) and hereditary sensory and autonomic neuropathy type 6 (HSAN\u2010VI). The genotypic spectrum is attested to by 19 distinct mutations but genotype\u2013phenotype correlation for both disorders is not well established. In this study, we performed next\u2010generation sequencing (NGS) on two families with different phenotypic presentations, one foetus (P1) with musculoskeletal and neurological malformations established by prenatal ultrasound and family history, and a 15\u2010year\u2010old female patient (P2) with skin blistering. P1\u00a0had a novel homozygous nonsense mutation, <jats:italic>DST<\/jats:italic>: NM_001144769, c.3805C&gt;T, p.R1269* within a region of genetic homozygosity (ROH). This mutation resides within the plakin domain of BPAG1 and ablates all isoforms of this protein, leading to novel extracutaneous phenotypes consistent with HSAN\u2010VI in P1. P2\u00a0had a recurrent homozygous mutation <jats:italic>DST<\/jats:italic>: NM_001723.7, c.3370C&gt;T, p.Gln1124* that presented with giant, trauma\u2010induced skin blisters without extracutaneous involvement. This mutation is located within the coiled\u2010coil domain present in the skin isoform of <jats:italic>DST<\/jats:italic>, BPGA1\u2010e, associated with EBS. In summary, we report two families with pathogenic <jats:italic>DST<\/jats:italic> variants and expand the spectrum of <jats:italic>DST<\/jats:italic> genotype and phenotypes.<\/jats:p>","DOI":"10.1111\/exd.14562","type":"journal-article","created":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T20:53:43Z","timestamp":1647032023000},"page":"949-955","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Pathogenic <i>DST<\/i> sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN\u2010VI)"],"prefix":"10.1111","volume":"31","author":[{"given":"Raziyeh","family":"Khalesi","sequence":"first","affiliation":[{"name":"Department of Medical Genetics DeNA Laboratory  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nailah","family":"Harvey","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Sidney Kimmel Medical College Thomas Jefferson University  Philadelphia Pennsylvania USA"},{"name":"Philadelphia College of Osteopathic Medicine  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masoud","family":"Garshasbi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medical Sciences Tarbiat Modares University  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elnaz","family":"Kalamati","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department Imam Zaman Hospital Mashhad University of Medical Science  Mashhad Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leila","family":"Youssefian","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Sidney Kimmel Medical College Thomas Jefferson University  Philadelphia Pennsylvania USA"},{"name":"Jefferson Institute of Molecular Medicine Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassan","family":"Vahidnezhad","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Sidney Kimmel Medical College Thomas Jefferson University  Philadelphia Pennsylvania USA"},{"name":"Jefferson Institute of Molecular Medicine Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4639-807X","authenticated-orcid":false,"given":"Jouni","family":"Uitto","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Cutaneous Biology Sidney Kimmel Medical College Thomas Jefferson University  Philadelphia Pennsylvania USA"},{"name":"Jefferson Institute of Molecular Medicine Thomas Jefferson University  Philadelphia Pennsylvania 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