Mutation analysis of the SERPINB7 gene in two patients with Nagashima-type palmoplantar keratoderma

VernacularTitle:长岛型掌跖角化病二例 SERPINB7基因突变研究
Author: Lina DUO ; Huijun WANG ; Zhimiao LIN ; Yong YANG
Publication Type:Journal Article
Keywords: Keratoderma,palmoplantar; Skin manifestations; DNA mutational analysis; Genes,SERPINB7; Nagashima-type palmoplantar keratosis
From: Chinese Journal of Dermatology 2016;(3):180-182
CountryChina
Language:Chinese
Abstract: Objective To report two cases of Nagashima-type palmoplantar keratoderma(NPPK), and to identify mutations in the SERPINB7 gene. Methods Clinical data were collected from two patients with NPPK and their parents, and peripheral blood samples were obtained from the two patients, their parents and 200 unrelated healthy controls. Genomic DNA was extracted from these blood samples. PCR was performed to amplify 8 exons and their flanking sequences of the SERPINB7 gene followed by DNA sequencing. Results A homozygous mutation (c.796C > T), which led to the formation of a premature termination codon at amino acid position 266 (p.R266*), was identified in both of the two patients. However, the patients′ healthy parents were heterozygous carriers of the mutation(c.796C > T). No mutation was found in the unrelated healthy controls. Conclusion The mutation c.796C > T in the SERPINB7 gene may be responsible for NPPK in the two patients.