Epidermolysis bullosa simplex: greater penetrance due to a keratin 5 gene variant

Jantke, Maren Elisabeth; Has, Cristina; Haenssle, Holger A.; Schön, Margarete; Emmert, Steffen

doi:10.1111/ced.12175

Cited by 2 publications

(3 citation statements)

References 5 publications

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“…Several factors were hypothesized to influence EBS phenotype, including modifying genes. It has already been shown that phenotype of EBS caused by KRT14 mutation may be more severe due to mutations in KRT5 . Indeed, four patients carried p.Gly138Glu variant of KRT5 (Table S1).…”

Section: Discussionmentioning

confidence: 92%

Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype

Jankowski

Wertheim–Tysarowska²,

Jakubowski

et al. 2014

Experimental Dermatology

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(17). Therefore, laminin-332 and other contents in both conditioned media might also contribute to the different migration activity.Both integrin b1 and b3 subunits may play essential role on HDF migration in autocrine manner, as antibodies to both integrin b1 and b3 subunits significantly inhibited HDF migration induced by HDF-conditioned medium. In addition, it was considered that even lower level integrin b3 subunit on HDFs might have strong effects on FN-related HDF migration in cooperative manner with integrin b1 subunit.Antibodies to both integrin b1 and b3 subunits inhibited HDF migration induced by HaCaT cell-conditioned medium, although the effect was much less than that by HDF-conditioned medium. This result suggested that FN in HaCaT cell-conditioned medium might bind to other cell surface protein(s) on HDFs to induce HDF migration. Therefore, the mechanisms in FN-induced HDF migration in paracrine manner may be partially different from that in autocrine manner. AcknowledgementsWe gratefully appreciate the secretarial work of Ms. Tomoko Tashima and Ms. Mami Nishida. This study was supported by Grants-in-Aid for Scientific Research (No. 20390308, 20591331, 21659271, 23591634, 23791298, 23791299, 23791300, 23791301, 24659534, 24591672, 24591640, 24791185) Conflict of interestsThe authors have declared no conflicting interests. Supporting InformationAdditional supporting data may be found in the supplementary information of this article: Data S1. Materials and methods.

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Section: Discussionmentioning

confidence: 92%

Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype

Jankowski

Wertheim–Tysarowska²,

Jakubowski

et al. 2014

Experimental Dermatology

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Section: Discussionmentioning

confidence: 94%

“…The proband exhibiting also the p.Gly138Glu was more severely affected than her father. [ 25 ] Therefore, the authors conclude that p.Gly138Glu exacerbates the clinical severity of EBS combined with mutation in KRT5 or KRT14 . However, another team reported ten members from the same family affected by EBS, five presenting the EBS‐loc phenotype and five the EBS‐gen‐intermed form.…”

Section: Discussionmentioning

confidence: 99%

Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5

Bchetnia

Allard

Boucher-Lafleur

et al. 2020

Experimental Dermatology

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Epidermolysis bullosa simplex (EBS) is a rare skin disease usually inherited in an autosomal dominant pattern. EBS is resulting from mutations in keratin 5 (KRT5) and keratin 14 (KRT14) 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 KRT5; p.Arg125Ser, p.Ile377Thr and p.Ile412Phe in KRT14. Here, we present a novel French‐Canadian 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 KRT5 and KRT14 genes and revealed the previously reported missense heterozygous mutation c. 1130T > C in KRT14 (p.Ile377Thr). Furthermore, this patient is carrying a second mutation in KRT5, c.413G > A (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.

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Epidermolysis bullosa simplex: greater penetrance due to a keratin 5 gene variant

Cited by 2 publications

References 5 publications

Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype

Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype

Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5

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