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

Bchetnia Mbarka, Allard Jean‐Pascal, Boucher‐Lafleur Anne‐Marie, Cruz Marino Tania, Dupéré Audrey, Powell Julie, McCuaig Catherine, Bernier Marie‐Ève et Laprise Catherine. (2020). Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5. Experimental Dermatology, 29, (10), p. 961-969.

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URL officielle: http://dx.doi.org/doi:10.1111/exd.14189

Résumé

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.

Type de document:Article publié dans une revue avec comité d'évaluation
ISSN:0906-6705
Volume:29
Numéro:10
Pages:p. 961-969
Version évaluée par les pairs:Oui
Date:2020
Identifiant unique:10.1111/exd.14189
Sujets:Sciences de la santé > Sciences médicales > Génétique
Département, module, service et unité de recherche:Départements et modules > Département des sciences fondamentales
Mots-clés:3D protein structure, basal cell carcinoma, codominance inheritance, epidermolysis bullosa simplex, keratin 14 (KRT14), keratine 5 (KRT5), mutation
Déposé le:21 juin 2021 19:03
Dernière modification:21 juin 2021 19:03
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