先天性大疱性鱼鳞病样红皮病一例KRT1及KRT10基因突变检测

Mutation of KRT1 and KRT10 genes in a patient with congenital bullous ichthyosiform erythroderma

目的:对先天性大疱性鱼鳞病样红皮病一例散发患者进行KRT1及KRT10基因的突变分析。方法:收集临床资料,提取外周血DNA,采用PCR技术扩增KRT1及KRT10基因的编码区及侧翼序列,用Sanger法测序检测潜在的基因突变,选取与患者无亲缘关系的100名健康人作为对照。结果:该患者KRT10检测出第1号外显子中第467位碱基发生G→A杂合突变(c.467G>A),导致其编码的第156号氨基酸发生错义突变(p.R156H)。患者父母及正常对照均未发现该突变。KRT1基因未检测到突变。结论:KRT10基因的错义突变c.467G>A可能与该患者发病有关。

Objective:To detect the mutations of KRT1 and KRT10 genes in a sporadic patient with congenital bullous ichthyosiform erythroderma(BCIE).Methods:Clinical data and the peripheral blood of the patient were collected and DNA was extracted.All coding exons and flanking sequence of the KRT1 and KRT10 genes were amplified by PCR.PCR products were directly sequenced to detect mutations.One hundred unrelated healthy people were as controls.Results:A heterozygous missense mutation c.467G>A in exon 1 of KRT10 gene was identified,which led to the protein at position 156 unnormal(p.R156H).This mutation was not detected in her unaffected parents and 100 normal controls.There was no mutation of KRT1 in all samples.Conclusion:Mutation of c.467G>A of KRT10 gene may be the genetic cause of BCIE in the sporadic patient.