伴丘疹性损害的先天性无毛症一例HR基因突变检测

目的：对一例散发的伴丘疹损害的先天性无毛症(APL)患儿进行Hairless(HR)基因突变检测。方法：提取患儿及其表型正常父母的血液样本DNA,采用Sanger测序法检测APL患儿HR基因突变。结果：测序结果显示患儿HR基因存在复合杂合突变,分别为位于第10号外显子的新的移码突变c.2270delC和位于第15号外显子内的新的错义突变c.3038 T>C。以上两种突变在100名健康对照中均未发现。结论：在该患者中检测到了HR基因的突变,其产物无毛蛋白的缺失或者功能减退可能是导致该患者发病的原因。

Mutation analysis of hairless gene in one patient with atrichia and papular lesions

Objective:To detect the Hairless(HR)gene mutation in one child affected with atrichia with papular lesions(APL).Methods:DNA was extracted from the child and her unaffected parents.HR gene mutations were detected by Sanger sequencing.Results:Compound heterozygous mutations of HR gene were identified in the patient,including a novel frame shift mutation in exon 10,c.2270delC,and a novel missense mutation in exon 15,c.3038 T>C.Both of the mutations were not found in 100 unrelated controls.Conclusion:The HR mutations may result in the loss of HR protein function,leading to APL.