title: A novelKRT5mutation associated with generalized severe epidermolysis bullosa simplex in a 2-year-old Chinese boy.
abstract: Mutations inkeratin 5 (KRT5)orKRT14genes are responsible for the most severe form of epidermolysis bullosa simplex (EBS), which is EBS generalized severe (EBS-gen sev). To date, only four pathogenic mutations (p.Arg165Ser and p.Lys199Asn inKRT5; p.Arg125Cys and p.Arg125His inKRT14) have been reported to be responsible for EBS-gen sev in the Chinese population. In the present study, a 2-year-old Chinese boy was clinically suspected to suffer from EBS, and thus Sanger sequencing was performed in the extracted genomic DNA samples from the patient, his parents and 100 healthy controls. A novelde novoheterozygous missense mutation c.503A>G (p.Glu168Gly) located at the N-terminal end segment of the 1A domain inKRT5was identified by molecular analysis.In silicoanalysis tools were used to predict the pathogenicity of the novel missense mutation. A diagnosis of EBS-gen sev was thus confirmed according to the clinical presentations and molecular results.
authors.affiliation: Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
authors.forename: Jia
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
authors.forename: Ming
authors.initials: M
authors.lastname: Yan
authors.affiliation: Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
authors.forename: Jianying
authors.initials: J
authors.lastname: Liang
authors.affiliation: Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.affiliation: Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
authors.forename: Zhirong
authors.initials: Z
authors.lastname: Yao
keywords: epidermolysis bullosa simplex; keratin 5; mutation analysis