多发性家族性毛发上皮瘤一家系CYLD基因新发突变

A Novel CYLD Gene Mutation in a Family with Multiple Familial Trichoepithelioma

目的 检测一个中国多发性家族性毛发上皮瘤(multiple familial trichoepithelioma,MFT)家系的圆柱瘤基因(cylindromatosis,CYLD)突变情况,并探讨基因突变位点与临床表型的相关性。方法 提取家系患者和健康个体的外周血DNA,采用聚合酶链反应扩增CYLD基因全部外显子并进行DNA测序,以100例与该家系无亲缘关系的正常人作为对照。结果 该家系先证者及其他4例患者CYLD基因第17号外显子均检测到一个杂合错义突变,c.2263C>A,导致密码子由CAG变成AAG,第755位氨基酸由谷氨酰胺被赖氨酸替代。结论 CYLD基因杂合错义突变c.2263C>A可能导致编码CYLD蛋白的结构与功能改变,这是本家系的发病基础。

Objective To analyze CYLD gene mutationin in a Chinese family with multiple familial trichoepithelioma(MFT),and to explore the relationship between the mutation site and clinical phenotype.Methods Collect peripheral blood DNA from patients of the MFT family and healthy individuals,then amplify all exons of CYLD gene by polymerase chain reaction,and conduct DNA sequencing.100 normal people who were not related to the family were used as controls.Results Heterozygous missense mutation c.2263C>A was detected in exon 17 of CYLD gene in the proband and 4 other patients,resulting in the codon changing from CAG to AAG,and the 755th amino acid being replaced by lysine from glutamine.Conclusion The heterozygous missense mutation c.2263CA in the CYLD gene may lead to changes in the structure and function of the coding protein,which is the pathogenetic of the disease in this family.