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A novel mutation of KRT 9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma
Author(s) -
Chen Nan,
Sun Jingying,
Song Yali,
Wei Xinjing,
Shi Yan,
Zhang Li
Publication year - 2017
Publication title -
journal of cosmetic dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.626
H-Index - 44
eISSN - 1473-2165
pISSN - 1473-2130
DOI - 10.1111/jocd.12263
Subject(s) - missense mutation , genetics , exon , proband , mutation , palmoplantar keratoderma , genodermatosis , gene mutation , biology , gene , medicine
Summary Background Mutations of keratin 9 ( KRT 9) gene is a hot research area of epidermolytic palmoplantar keratoderma ( EPPK ). Aims To identify the genes caused the EPPK of a Chinese family. Patients/Methods Three cases of lesions were collected for pathological examination. Genomic DNA was extracted from peripheral blood samples of six patients and five healthy individuals and 100 unrelated individuals. Polymerase chain reaction ( PCR ) was used to amplify exons 1 of KRT 9 gene. PCR products were sequenced to identify potential mutations. Results The lesion pathology of the proband and two ill relatives diagnosed EPPK . A new heterozygous missense mutation (488G>T) was identified in the 488 site of exon 1 of KRT 9 gene in all six patients, which resulted in substitution of thymine for guanine, and substitution of leucine acid for arginine acid at position 163 of the KRT 9 protein. The same mutation was not found in the five healthy individuals of the family and 100 unrelated individuals. Conclusions The new heterozygous missense mutation (488G>T) of KRT 9 gene is probably the cause of EPPK in this Chinese family.