Mutation analysis of GJB3 and GJB4 genes in two patients with erythrokeratodermia variabilis

VernacularTitle:二例可变性红斑角化症患者GJB3、4基因突变研究
Author: Xin ZHOU ; Jun REN ; Xin TIAN ; Yanhua LIANG ; Sanquan ZHANG ; Zhenming HUANG ; Xiaokun LIU ; Meihua CHEN
Publication Type:Journal Article
From: Chinese Journal of Dermatology 2012;45(2):129-130
CountryChina
Language:Chinese
Abstract: ObjectiveTo detect the mutations of GJB3 and GJB4 genes in two sporadic cases of erythrokeratodermia variabilis(EKV).MethodsGenomic DNA was extracted from two sporadic patients with EKV,their family members,and 100 normal human controls.All the exons and adjacent splice sites of GJB3 and GJB4 genes were amplified by PCR.Mutation scanning was carried out via direct bidirectional DNA sequencing.ResultsA G134C mutation was found at the GJB3 gene in patient 1,which caused a substitution of glycine by alanine at codon 45 (G45A).No mutation was found in the GJB4 gene in case 1 or GJB3 and GJB4 genes in case 2.ConclusionA missence mutation G45A in GJB3 gene is found in a patient with EKV.