New Recessive Dystrophic Epidermolysis Bullosa intermediate variant resulting from alternative splicing of exon 19 and truncation in FN III-like domain of type VII collagen

Here we described two unrelated cases of a new pathogenic variant in COL7A1, the deletion c.2588-3_2588delCAGC. The variant causes alternative splicing in the preceding exon and results in truncation of fibronectin III (FN-III) like domain of C7. This new variant is distinct from previously document...

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Bibliographic Details
Published in:British journal of dermatology (1951) 2024-10
Main Authors: Martynova, Aleksandra A, Kubanov, Alexey A, Evtushenko, Nadezhda A, Kosykh, Anastasiya V, Kondratyev, Nikolay V, Beilin, Arkadii K, Karamova, Arfenya E, Monchakovskaya, Ekaterina S, Bogdanova, Ekaterina A, Azimov, Karim A, Ziganshin, Rustam H, Nefedova, Maria A, Bozhanova, Nina G, Zaklyazminskaya, Elena V, Gurskaya, Nadya G
Format: Article
Language:English
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Summary:Here we described two unrelated cases of a new pathogenic variant in COL7A1, the deletion c.2588-3_2588delCAGC. The variant causes alternative splicing in the preceding exon and results in truncation of fibronectin III (FN-III) like domain of C7. This new variant is distinct from previously documented variants as it does not completely exclude exon 19, restores open reading frame of COL7A1 and results in a less severe form of RDEB intermediate.
ISSN:0007-0963
1365-2133
1365-2133
DOI:10.1093/bjd/ljae389