[1]张皓,付希安,王小伶,等.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[J].中国皮肤性病学杂志,2019,(11):1247-1250.[doi:10.13735/j.cjdv.1001-7089.201903085]
 ZHANG Hao,FU Xian,WANG Xiaoling,et al.Detection of CYLD Gene Mutation in a Family with Multiple Familial Trichoepithelioma and Literature Review[J].The Chinese Journal of Dermatovenereology,2019,(11):1247-1250.[doi:10.13735/j.cjdv.1001-7089.201903085]
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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
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《中国皮肤性病学杂志》[ISSN:1001-7089/CN:61-1197/R]

卷:
期数:
2019年11期
页码:
1247-1250
栏目:
论著
出版日期:
2019-10-25

文章信息/Info

Title:
Detection of CYLD Gene Mutation in a Family with Multiple Familial Trichoepithelioma and Literature Review
文章编号:
1001-7089(2019)11-1247-04
作者:
张皓12付希安2王小伶2孙乐乐2刘永霞2刘红2张福仁2
1.滨州医学院,山东 烟台250062; 2.山东省皮肤病性病防治研究所,山东 济南250022
Author(s):
ZHANG Hao12FU Xian2WANG Xiaoling2SUN Lele2LIU Yongxia2LIU Hong2ZHANG Furen2
(1.Binzhou Medical University,YanTai 264003,China; 2.Shandong Provincial Institute of Dermatology and Venereology,Jinan 250022,China)
关键词:
多发性家族性毛发上皮瘤 CYLD基因 临床表现
Keywords:
Multiple familial trichoepithelioma CYLD gene Clinical manifestation
分类号:
R 739.5
DOI:
10.13735/j.cjdv.1001-7089.201903085
文献标志码:
A
摘要:
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。
Abstract:
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.

参考文献/References:

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相似文献/References:

[1]赵小燕,黄一锦,赵岩,等.多发性家族性毛发上皮瘤一家系CYLD基因突变及CYLD蛋白的检测[J].中国皮肤性病学杂志,2013,(11):1099.
 ZHAO Xiao-yan,HUANG Yi-jin,ZHAO Yan,et al.Detection of CYLD Gene Mutation and CYLD Protein Expression in a Chinese Family with Multiple Familial Trichoepithelioma[J].The Chinese Journal of Dermatovenereology,2013,(11):1099.

备注/Memo

备注/Memo:
[基金项目] 山东省医学科学院医药卫生科技创新工程
[作者单位] 1.滨州医学院,山东 烟台250062; 2.山东省皮肤病性病防治研究所,山东 济南250022
[通讯作者] 张福仁,E-mail:zhangfuren@hotmail.com[Corresponding author] ZHANG Furen,E-mail:zhangfuren@hotmail.com
更新日期/Last Update: 2019-10-24