Hidrotic ectodermal dysplasia in a Chinese pedigree:A case report  

作　　者：Ming-Yi Liao Hui Peng Long-Nian Li Tao Yang Shi-Yin Xiong Xiao-Ying Ye 

机构地区：[1]Department of Dermatology,First Affiliated Hospital of Gannan Medical University,Ganzhou 341000,Jiangxi Province,China [2]Department of Dermatology,Ganzhou People's Hospital,Ganzhou 341000,Jiangxi Province,China

出　　处：《World Journal of Clinical Cases》2023年第6期1403-1409,共7页世界临床病例杂志

摘　　要：BACKGROUND We report on a large family of Chinese Han individuals with hidrotic ectodermal dysplasia(HED)with a variation in GJB6(c.31G>A).The patients in the family had a triad of clinical manifestations of varying degrees.Although the same variation locus have been reported,the clinical manifestations of this family were difficult to distinguish from those of congenital thick nail disorder,palmoplantar keratosis,and congenital hypotrichosis.CASE SUMMARY This investigation involved a large Chinese family of 46 members across five generations and included 12 patients with HED.The proband(IV4)was a male patient with normal sweat gland function and dental development,no skeletal dysplasia,no cognitive disability,and no hearing impairments.His parents were not consanguineously married.Physical examination of the proband revealed thinning hair and thickened grayish-yellow nails and toenails with some longit-udinal ridges,in addition to mild bilateral palmoplantar hyperkeratosis.GJB6,GJB2,and GJA1 have been reported to be the causative genes of HED;therefore,we subjected the patient’s samples to Sanger sequencing of these three genes.In this family,the variation locus was at GJB6(c.31G>A,p.Gly11Arg).Overex-pression vectors of wild-type GJB6 and its variants were established and transfected into HaCaT cell models,and the related mRNA and protein expression changes were determined using real-time reverse transcriptase-polymerase chain reaction and Western blot,respectively.CONCLUSION We report another HED phenotype associated with GJB6 variations,which can help clinicians to diagnose HED despite its varying presentations.

关 键 词：Hidrotic ectodermal dysplasia GJB6 CONNEXIN Gene sequencing Cell transfection Case report 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]