Abstract:
:Mutations in keratin 5 (KRT5) or KRT14 genes 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 in KRT5; p.Arg125Cys and p.Arg125His in KRT14) 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 novel de novo heterozygous missense mutation c.503A>G (p.Glu168Gly) located at the N-terminal end segment of the 1A domain in KRT5 was identified by molecular analysis. In silico analysis 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.
journal_name
Exp Ther Medjournal_title
Experimental and therapeutic medicineauthors
Zhang J,Yan M,Liang J,Li M,Yao Zdoi
10.3892/etm.2016.3717subject
Has Abstractpub_date
2016-11-01 00:00:00pages
2823-2826issue
5eissn
1792-0981issn
1792-1015pii
ETM-0-0-3717journal_volume
12pub_type
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