EDA基因大片段缺失X连锁隐性遗传无汗/少汗型外胚叶发育不全家系研究

目的:收集X连锁隐性遗传无汗/少汗型外胚叶发育不全(XLHED)家系,并分析家系的遗传方式、表型特点及致病基因型。方法:采用课题组制定的临床检查和家系调查技术路线,对通过先证者法收集的XLHED家系进行遗传方式和临床表现分析。利用直接测序法对家系EDA基因开放阅读框内外显子编码区及外显子-内含子接头区进行核苷酸序列分析。结果:收集到的外胚叶发育不全家系为X连锁隐性遗传,男性患者临床表现典型,女性携带者有轻度临床表现,家系内表现度差异小。家系患者EDA基因外显子3缺失。结论:本研究收集一个典型XLHED大家系,患者临床特征明显。家系患者EDA基因存在大片段缺失。

Study of Chinese X-linked Hypohidrotic Ectodermal Dysplasia Pedigrees Caused by Exon Deletion of EDA Gene.

Objective: To report a Chinese X-linked hypohidrotic ectodermal dysplasia pedigree and analyze genetic and phenotypic characters of this pedigree. Methods: The protocol was similar with the previous. Briefly, the pedigree was reported through the identified proband. All family members were investigated through clinical examination and pedigree analysis. The whole nucleotide sequence of EDA gene was studied by direct sequencing. Results: The pedigree was transmitted through X-linked recessive manner. Male patients in this family have characteristic features, while carriers only have mild exhibition. The whole exon 3 EDA gene was deleted in this pedigree. Conclusion: This family showed classical phenotype of XLHED and the causative mutation was exon 3 deletion.