多发性家族性毛发上皮瘤1家系CYLD基因突变检测及文献复习

Detection of CYLD Gene Mutation in a Family with Multiple Familial Trichoepithelioma and Literature Review

目的研究中国汉族多发性家族性毛发上皮瘤1家系CYLD基因突变,初步分析该基因突变位点与多发性家族性毛发上皮瘤表型的关系。方法收集该家系患者的临床资料,抽取该家系中2例患者、1例正常人及100例无亲缘关系的健康对照的外周血并提取DNA,通过Sanger测序检测CYLD基因9~20号外显子突变。结果在该家系的2例患者CYLD基因的第20号外显子中均检测到杂合无义突变c.2806C>T,家系中1例正常人及100例健康对照均未检测到上述突变。该突变在多发性家族性毛发上皮瘤、家族性圆柱瘤和Brooke-Spiegler综合征中已有报道。结论CYLD基因的无义突变c.2806C>T是该家系中患者的致病突变。同1个突变在不同的家系中的临床表型可能有差异。

Objective To analyze the CYLD gene mutation in family of multiple familial trichoepithelioma of the Han in china,and preliminarily analyze the relationship between the genotype and phenotype.Methods The clinical data of each family were collected.Genomic DNA was extracted from peripheral blood samples taken from two patients,one normal person of the family and 100 healthy controls without relatives.The mutation in exon 9~20 of CYLD gene was detected by Sanger sequencing.Results The heterozygotic nonsense mutation c.2806C>T was detected in the CYLD gene exon 20 from the two patients in this family,and the mutation was not detected in the normal person and 100 healthy controls.This mutation has also been reported in multiple familial trichoepithelioma,Cylindromas and Brooke-Spieglersyndrome.Conclusion The nonsense mutation of CYLD gene c.2806C>T is the pathogenic mutation of this pedigree patient.Same mutations may lead to different clinical phenotypes in different families.