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Article

Allele-Specific Inactivation of an Autosomal Dominant Epidermolysis Bullosa Simplex Mutation Using CRISPR-Cas9.

The CRISPR journal - 1 Aug 2022

Bchetnia Mbarka, Dionne Gagné Rebecca, Powell Julie, Morin Charles, McCuaig Catherine, Dupérée Audrey, Germain Lucie, Tremblay Jacques P, Laprise Catherine

Abstract excerpt

Epidermolysis bullosa simplex (EBS) is a rare mechanobullous disease caused by dominant-negative mutations in either keratin 5 (KRT5) or keratin 14 (KRT14) genes. Until now, there is no cure for EBS and the care is primarily palliative. The discovery of the clustered regularly interspaced short palindromic repeat (CRISPR)-Cas9 system raised hope for the treatment of EBS and many other autosomal dominant diseases...

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Identifiers

PMID: 35862015
DOI: 10.1089/crispr.2021.0132

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