X-连锁无汗性外胚层发育不良一家系EDA新发突变

目的检测一X连锁无汗性外胚层发育不良家系EDA基因突变。方法提取先证者、其姐和父母外周血基因组DNA,PCR扩增EDA基因编码区的8个外显子,PCR产物测序,明确突变位点。结果先证者EDA基因6号外显子第781位胞嘧啶C突变成胸腺嘌呤T,使其编码的蛋白第261位谷氨酰胺密码子CAA变成终止密码子UAA,蛋白表达提前终止;患者的姐姐和母亲在该位点均为C/T杂合子,患者父亲在该位点为C纯合子。结论本家系中c.781C>T突变为国内外首报,是导致X连锁无汗性外胚层发育不良临床表型的原因。

A novel mutation of the EDA gene in a Chinese family with X - linked hypohidrotic ectodermal dysplasia.

Objective： Detect EDA mutation in a X -linked hypohidrotic ectodermal dysplasia family. Methods： Genomic DNA of this was extracted and 8 exons of EDA gene were amplified by polymerase chain reaction, all products were sequenced directly. Re- suits： A terminator codon mutation, c. 781C 〉 T, in exon 6 was identified, which led to a premature stop of protein ectodysplasin A. The patient＇s mother and sister were heterozygous for this mutation. Conclusion： c. 781 C 〉 T cause X -linked hypohidrotic ectodermal dysplasia in this pedigree. Genetic analyses are useful for checking mutation and carrier status in families with XLHED, and they also provide information for genetic counseling and prenatal diagnosis.