Sequence analysis revealed she and other 23 family members all carry a recurrent missense mutation p.A88V (c.263C > T) in GJB6. We presented this case to highlight the pathogenic role of p.A88V mutation in GJB6 and emphasize the importance of gene testing in diagnosis, prenatal diagnosis and future gene treatment of HED. Here, GJB6 is linked to hypohidrotic ectodermal dysplasia.