scholarly journals The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome

2014 ◽  
Vol 134 (3) ◽  
pp. 845-849 ◽  
Author(s):  
Cristina Has ◽  
Dimitra Kiritsi ◽  
Jemima E. Mellerio ◽  
Claus-Werner Franzke ◽  
Emma Wedgeworth ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Junctional Epidermolysis Bullosa ◽  
Kindler Syndrome ◽  
Xvii Collagen

scholarly journals Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa

2021 ◽  
Vol 22 (7) ◽  
pp. 3326
Author(s):  
Michael Ablinger ◽  
Thomas Lettner ◽  
Nicole Friedl ◽  
Hannah Potocki ◽  
Theresa Palmetzhofer ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Antisense Oligonucleotides ◽  
Exon Skipping ◽  
Junctional Epidermolysis Bullosa ◽  
Reading Frame ◽  
Collagen Expression ◽  
Promising Tool ◽  
Mucous Membranes ◽  
Personalized Approach ◽  
Xvii Collagen

Intermediate junctional epidermolysis bullosa caused by mutations in the COL17A1 gene is characterized by the frequent development of blisters and erosions on the skin and mucous membranes. The rarity of the disease and the heterogeneity of the underlying mutations renders therapy developments challenging. However, the high number of short in-frame exons facilitates the use of antisense oligonucleotides (AON) to restore collagen 17 (C17) expression by inducing exon skipping. In a personalized approach, we designed and tested three AONs in combination with a cationic liposomal carrier for their ability to induce skipping of COL17A1 exon 7 in 2D culture and in 3D skin equivalents. We show that AON-induced exon skipping excludes the targeted exon from pre-mRNA processing, which restores the reading frame, leading to the expression of a slightly truncated protein. Furthermore, the expression and correct deposition of C17 at the dermal–epidermal junction indicates its functionality. Thus, we assume AON-mediated exon skipping to be a promising tool for the treatment of junctional epidermolysis bullosa, particularly applicable in a personalized manner for rare genotypes.

Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4

2018 ◽  
Vol 46 (2) ◽  
pp. e61-e63
Author(s):  
Kenji Yoshida ◽  
Mariko Sadamoto ◽  
Takashi Sasaki ◽  
Akiharu Kubo ◽  
Akira Ishiko
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Pyloric Atresia ◽  
Junctional Epidermolysis Bullosa ◽  
Homozygous Missense Mutation

A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa

2003 ◽  
Vol 309 (1) ◽  
pp. 96-103 ◽  
Author(s):  
Maria Scaturro ◽  
Patrizia Posteraro ◽  
Alessandro Mastrogiacomo ◽  
Maria Letizia Zaccaria ◽  
Naomi De Luca ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Junctional Epidermolysis Bullosa ◽  
Laminin 5

Read-through for nonsense mutations in type XVII collagen deficient junctional epidermolysis bullosa

2021 ◽  
Author(s):  
Cristina Has ◽  
Saliha Beyza Sayar ◽  
Shuangshuang Zheng ◽  
Esteban Chacón-Solano ◽  
Irina Condrat ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Nonsense Mutations ◽  
Junctional Epidermolysis Bullosa ◽  
Xvii Collagen

Late-onset skin fragility in childhood: a case of junctional epidermolysis bullosa of late onset caused by a missense mutation inCOL17A1

2013 ◽  
Vol 169 (3) ◽  
pp. 714-715 ◽  
Author(s):  
S. Vanotti ◽  
C. Chiaverini ◽  
A. Charlesworth ◽  
N. Bonnet ◽  
P. Berbis ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Late Onset ◽  
Junctional Epidermolysis Bullosa ◽  
Skin Fragility
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