Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva

Abstract

The novel mutations c.848C > T (p.P283L) and c.869C > A(p.T290N) arose de novo and were considered as the cause of two Chinese EKVP. GJA1 P283L and T290N mutations lead to Cx43 protein cytoplasmic mislocalization. Our finding expands the mutant spectrum of GJA1 gene and adds new understanding of the genotype-phenotype correlation.