OBJECTIVE: To determine the molecular etiology for a Chinese pedigree affected 
with epidermolysis bullosa simplex (EBS).
METHODS: Target region sequencing using a hereditary epidermolysis bullosa 
capture array combined with Sanger sequencing and bioinformatics analysis were 
used. Mutation taster, PolyPhen-2, Provean, and SIFT software and NCBI online 
were employed to assess the pathogenicity and conservation of detected 
mutations. One hundred healthy unrelated individuals were used as controls.
RESULTS: Target region sequencing showed that the proband has carried a 
unreported heterozygous c.1234A>G (p.Ile412Val) mutation of the KRT14 gene, 
which was confirmed by Sanger sequencing in other 8 affected individuals but not 
among healthy members of the pedigree. Bioinformatics analysis indicated that 
the mutation is highly pathogenic. Remarkably, 3 members of the family (2 
affected and 1 unaffected) have carried a heterozygous c.1237G>A (p.Ala413Thr) 
mutation of the KRT14 gene, which was collected in Human Gene Mutation Database 
(HGMD). Bioinformatics analysis indicated that the mutation may not be 
pathogenic. Both mutations were not detected among the 100 healthy controls.
CONCLUSION: The novel c.1234A>G(p.Ile412Val) mutation of the KRT14 gene is 
probably responsible for the disease, while c.1237G>A (p.Ala413Thr) mutation of 
KRT14 gene may be a polymorphism. Compared with Sanger sequencing, target region 
capture sequencing is more efficient and can significantly reduce the cost of 
genetic testing for EBS.