Mutation detection of type Ⅱ hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix

• Published in: Chinese medical journal Vol. 126; no. 16; pp. 3103 - 3106
• Main Authors: YE, Zhen-zhen, NAN, Xu, ZHAO, Hong-shan, CHEN, Xue-rong, SONG, Qing-hua
• Format: Journal Article
• Language: English
• Published: China Department of Dermatology, Peking University Third Hospital,Beijing 100191, China%Department of Medical Genetics, School of Basic Medical Sciences,Human Disease Genomics Center, Peking University, Beijing 100191, China 01.08.2013
• Subjects: Asian Continental Ancestry Group - genetics; China - ethnology; Humans; Keratins, Hair-Specific - genetics; Keratins, Type II - genetics; Microscopy, Electrochemical, Scanning; Monilethrix - etiology; Monilethrix - genetics; Monilethrix - pathology; Mutation; 中国汉族; 先天性; 家庭; 扫描电子显微镜; 显微镜检查; 突变检测; 突变类型; 蛋白基因; China; keratin; heterozygous mutation; KRT86; monilethrix
• ISSN: 0366-6999; 2542-5641; 2542-5641
• DOI: 10.3760/cma.j.issn.0366-6999.20130332

Background Monilethrix is an autosomal dominant hair disorder characterized clinically by alopecia and follicular papules.In this study,we collected a Han monilethrix family to detect the mutations in patients and investigated the correlation between the genotype and phenotype of monilethrix.Methods In this study,we identified a Chinese family with monilethrix through light microscopic and scanning electron microscopic （SEM） examination.Genomic DNA from peripheral blood samples was prepared.DNA samples from controls and monilethrix patients were subject to polymerase chain reaction （PCR） amplification.Two pairs of primers were used to amplify the seventh exon of KRT86.Mutation screening of the PCR products was detected using direct sequencing.Results Light microscopic examination showed a regular alternate enlargement and narrow area.SEM examination showed that part of the cuticle of the nodules shed and disappeared gradually in the narrow area with granular protrusions on the surface similar to the erosion-like structure.Parallel longitudinal ridge and groovepattern appeared,and the ridges varied in width,like dead wood.A heterozygous transversion mutation c.1204G＞A（p.E402K） in the seventh exon of KRT86 was identified in both patients.Conclusions The mutation of extron 7 of KRT86 identified plays a major role in the pathogenesis of this pedigree with monilethrix,and is a mutation hot spot of KRT86.Further research is needed to explore the relationship between the phenotype and the mutation of the type Ⅱ hair keratin gene KRT86 of monilethrix.