{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T22:38:14Z","timestamp":1783031894236,"version":"3.54.6"},"reference-count":40,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,9,22]],"date-time":"2020-09-22T00:00:00Z","timestamp":1600732800000},"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":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Epidermolysis bullosa simplex (EBS) is a rare skin disease usually inherited in an autosomal dominant pattern. EBS is resulting from mutations in keratin 5 (<jats:italic>KRT5)<\/jats:italic> and keratin 14 (<jats:italic>KRT14)<\/jats:italic> genes encoding the keratins 5 and 14 proteins expressed in the keratinocytes of the basal layer of the epidermis. To date, seven pathogenic mutations have been reported to be responsible for EBS in the Canadian population from the province of Quebec: p.Pro25Leu, p.Leu150Pro, p.Met327Thr and p.Arg559X in <jats:italic>KRT5<\/jats:italic>; p.Arg125Ser, p.Ile377Thr and p.Ile412Phe in <jats:italic>KRT14<\/jats:italic>. Here, we present a novel French\u2010Canadian patient diagnosed with EBS confined to the soles but presenting a severe complication form including blisters, hyperkeratosis, skin erosions and toenail abnormalities. Mutation screening was performed by direct sequencing of the entire coding regions of <jats:italic>KRT5<\/jats:italic> and <jats:italic>KRT14<\/jats:italic> genes and revealed the previously reported missense heterozygous mutation c. 1130T\u00a0&gt;\u00a0C in <jats:italic>KRT14<\/jats:italic> (p.Ile377Thr). Furthermore, this patient is carrying a second mutation in <jats:italic>KRT5<\/jats:italic>, c.413G\u00a0&gt;\u00a0A (p.Gly138Glu), which has been linked to an increased risk of basal cell carcinoma in the literature. We suspect an impact of the p.Gly138Glu variant on the EBS phenotype severity of the studied patient. The pathogenicity and consequences of both genetic variations were simulated by in silico tools.<\/jats:p>","DOI":"10.1111\/exd.14189","type":"journal-article","created":{"date-parts":[[2020,9,4]],"date-time":"2020-09-04T03:19:31Z","timestamp":1599189571000},"page":"961-969","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0259-1612","authenticated-orcid":false,"given":"Mbarka","family":"Bchetnia","sequence":"first","affiliation":[{"name":"Centre intersectoriel en sant\u00e9 durable D\u00e9partement des sciences fondamentales Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi (UQAC)  Saguenay QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Pascal","family":"Allard","sequence":"additional","affiliation":[{"name":"Centre int\u00e9gr\u00e9 universitaire de sant\u00e9 et de services sociaux du Saguenay\u2013Lac\u2010Saint\u2010Jean  Saguenay QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Marie","family":"Boucher\u2010Lafleur","sequence":"additional","affiliation":[{"name":"Centre intersectoriel en sant\u00e9 durable D\u00e9partement des sciences fondamentales Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi (UQAC)  Saguenay QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Cruz Marino","sequence":"additional","affiliation":[{"name":"Centre int\u00e9gr\u00e9 universitaire de sant\u00e9 et de services sociaux du Saguenay\u2013Lac\u2010Saint\u2010Jean  Saguenay QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Dup\u00e9r\u00e9","sequence":"additional","affiliation":[{"name":"Centre int\u00e9gr\u00e9 universitaire de sant\u00e9 et de services sociaux du Saguenay\u2013Lac\u2010Saint\u2010Jean  Saguenay QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Powell","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire Sainte\u2010Justine Universit\u00e9 de Montr\u00e9al  Montr\u00e9al QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"McCuaig","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire Sainte\u2010Justine Universit\u00e9 de Montr\u00e9al  Montr\u00e9al QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010\u00c8ve","family":"Bernier","sequence":"additional","affiliation":[{"name":"Centre int\u00e9gr\u00e9 universitaire de sant\u00e9 et de services sociaux du Saguenay\u2013Lac\u2010Saint\u2010Jean  Saguenay QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Laprise","sequence":"additional","affiliation":[{"name":"Centre intersectoriel en sant\u00e9 durable D\u00e9partement des sciences fondamentales Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi (UQAC)  Saguenay QC Canada"},{"name":"Centre int\u00e9gr\u00e9 universitaire de sant\u00e9 et de services sociaux du Saguenay\u2013Lac\u2010Saint\u2010Jean  Saguenay QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"crossref","first-page":"8766","DOI":"10.1016\/S0021-9258(19)38954-9","volume":"265","author":"Steinert P. 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