Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays

Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays

Abstract Junctional epidermolysis bullosa (JEB) is characterized by mucocutaneous fragility. We enrolled 69 cases of recessive JEB, with 13.0% of these cases remained genetically undiagnosed following an initial exome sequencing. Among cases carried COL17A1 variants, this proportion can reach 31.6%....

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Main Authors: Fuying Chen, Ruoqu Wei, Yumeng Wang, Qiaoyu Cao, Jianbo Wang, Chenfei Wang, Dingjin Yao, Zhirong Yao, Cheng Ni, Ming Li
Format: Article
Language:English
Published: Nature Portfolio 2025-02-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00466-8
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