John Libbey Eurotext

European Journal of Dermatology

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A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa Volume 31, numéro 2, March-April 2021

Illustrations

  • Figure 1
Auteurs
1 Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan
2 School of Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan
3 Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan
4 Center of Clinical Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan
5 Department of Dermatology, Southern Philippines Medical Center, Davao, Philippines
6 Department of Dentistry, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan
7 International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan
8 Department of Physiology, College of Medicine, National Cheng Kung University, Tainan, Taiwan
9 Department of Obstetrics and Gynecology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan
10 St. John's Institute of Dermatology, King's College London (Guy's Campus), London, UK
a These authors contributed equally

Type XVII collagen (COL17) is a transmembrane protein in the dermal-epidermal junction and forms a part of the hemidesmosome [1]. Deficiency and dysfunction of COL17 caused by COL17A1 mutations lead to junctional epidermolysis bullosa (JEB), a rare genetic skin disorder characterized by skin fragility since birth [2]. Inheritance of JEB is autosomal recessive, with parents being heterozygous carriers, and de novo mutations occur very rarely [3, 4]. Herein, we report a JEB patient with extensive [...]