中文摘要：

目的：探讨无汗/少汗型外胚叶发育不全（HED）家系的遗传方式及表型特点,并对家系致病基因进行筛查。方法：采用临床检查和家系调查的方法,对通过先证者法收集的HED家系进行遗传方式和临床表现分析。利用直接测序法对EDA、EDAR和EDARADD基因开放阅读框内外显子编码区及外显子-内含子接头区核苷酸序列进行分析。结果：收集到的家系为典型的无汗/少汗型外胚叶发育不全家系,先证者临床表现典型,毛发发育不良,头发、眉毛、睫毛稀疏;汗腺发育不良,无汗/少汗,体温随季节变化有明显改变;缺失多颗恒牙,并有乳牙滞留。家系内其他成员无明显异常表现。对EDA、EDAR和EDARADD基因开放阅读框的测序分析未找到致病突变。结论：本研究收集家系的患者临床症状明显,排除目前已知致病基因突变。

英文摘要：

Objective：To analyze genetic and phenotypic characters as well as the causative gene of one Chinese hypohidrotic ectodermal dysplasia（HED）pedigree.Methods：The pedigree was reported through the identified proband.All family members were investigated through clinical examination and pedigree analysis.The whole ORF nucleotide sequence of EDA,EDAR and EDARADD were analyzed by direct sequencing.Results：The proband male patient has characteristic phenotype of HED.There was no mutation in EDA,EDAR and EDARADD gene.Conclusion：The patient showed similar phenotype with the previous report.But this study did not get the causative gene.