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      Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.

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          Abstract

          Epidermolysis bullosa (EB) is a heritable blistering disorder. We performed a next-generation sequencing-based multigene panel test and successfully predicted 100% of the EB types, including, 36 EB simplex (EBS), 13 junctional EB (JEB), 86 dystrophic EB (DEB), and 3 Kindler EB. Chinese JEB and recessive DEB (RDEB) patients have relatively mild phenotypes; for severe type separately accounts for 45.5% and 23.8%, respectively. We identified 96 novel and 49 recurrent pathogenic variants in 11 genes, although we failed to detect the second mutation in one JEB and five RDEB patients. We identified one novel p.E475K mosaic mutation in the clinically normal mother of one out of 13 EBS patients with KRT5 mutations, one recurrent p.G2034R mosaic mutation, and one novel p.G2043R mosaic mutation in the clinically normal relatives of two out of 19 dominant DEB patients. This study shows that next-generation technology could be an effective tool in diagnosing EB.

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          Author and article information

          Journal
          Clin Genet
          Clinical genetics
          Wiley
          1399-0004
          0009-9163
          August 2020
          : 98
          : 2
          Affiliations
          [1 ] Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
          [2 ] Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China.
          [3 ] Department of General Surgery, Tongji Hospital, Tongji University School of Medicine, Shanghai, China.
          Article
          10.1111/cge.13791
          32484238
          126f960a-c91d-44b3-b121-02dfb9a0547a
          © 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
          History

          epidermolysis bullosa,gene panel,genetic disease,pathogenic variant

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