Detection of gene mutation in a case of Nagashima-type palmoplantar keratoderma
CAO Yuanyuan
YUAN Zhaojun
JIN Chuanyang
WANG Tianzi
LIAO Xiaojie
LIU Hong
Abstract：Objective To report a case of Nagashima-type palmoplantar keratoderma(NPPK),identify pathogenic gene,and assist clinical diagnosis and classification of this disease.Methods Clinical data of the patient were collected.Genomic DNA was extracted from the patient's periph-eral blood sample.Whole exome high-throughput sequencing was used to identify the pathogenic mutation,and Sanger sequencing was applied to verify the mutation site.Results Heterozygous mutations of c.455G＞T(p.Gly152Val)and c.796C＞T(p.Arg266Ter)were found in the pa-tient.The patient's father was a heterozygous carrier of the mutation c.455G＞T without the c.796C＞T mutation,and his mother was a heterozygous carrier of the mutation c.796C＞T with-out the c.455G＞T mutation.Together with the clinical manifestations of diffuse erythema on the palms and toes since childhood,the patient was diagnosed with NPPK.Conclusions The c.455G＞T and c.796C＞T heterozygous mutations in the SERPINB7 gene are the pathogenic cause of NPPK in this patient.The diagnosis and disease type of the patient are clarified,and ge-netic counseling is provided according to the patient's request.
Keywords：palmoplantar keratosisNagashima-typeSERPINB7 genecompound heter-ozygous mutations
Publication Date：2025-01-27
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 23-27 )