念珠状发1例临床表型和KRT86基因突变分析  

Mutation Analysis of the KRT86 Gene in a Child with Monilethrix

作　　者：牟韵竹[1] 张正中[1] 杨萍[1] 杨浩[1] 刘一平[1] 刘林莉[1] 陈星[1] 

机构地区：[1]川北医学院附属医院皮肤性病科,四川南充637000

出　　处：《中国皮肤性病学杂志》2016年第12期1211-1213,共3页The Chinese Journal of Dermatovenereology

摘　　要：目的检测1例念珠状发患儿KRT86基因突变情况。方法收集1例念珠状发的临床表型,提取患儿及其母亲的外周血DNA,应用PCR反应扩增KRT86所有外显子编码区及其侧翼序列,通过对PCR反应产物直接测序进行序列分析。结果患儿病发呈串珠状改变,缩窄部易折断。测序结果显示患儿在KRT86基因第7外显子存在c.1204 G>A(p.E402K)错义突变,其母亲及100例无关正常对照未检测出该位点突变。结论此错义突变可能是导致该患儿发病的原因。Objective To identify pathogenic mutation in the KRT86 gene in a child with monilethrix. Methods Blood samples and clinical data were collected from both patient and his mother. Genomic DNA was extracted from peripheral blood. All the coding exons and exon-intron flanking sequences of KRT86 were amplified by polymerase chain reaction, and products were analyzed with direct sequencing. Results The hair shaft of the child showed a beaded structure of alternating elliptical nodes and constrictions （internodes）. These internodes exhibit a high propensity to fracture. One missense mutation of c. 1204 G 〉 A in extron 7 of KRT86 was detected in the child. This mutation was not found in his mother and 100 unrelated healthy controis. Conclusion The E420K mutation of the KRT86 gene may be the underlying cause of monilethrix in this child.

关 键 词：念珠状发 KRT86基因 突变 

分 类 号：R758.71[医药卫生—皮肤病学与性病学]