[1]何娟,张淼,赵莼,等.骨膜增生厚皮症1家系报告及基因突变分析[J].中国皮肤性病学杂志,2019,(10):1116-1120.[doi:10.13735/j.cjdv.1001-7089.201901199]
 HE Juan,ZHANG Miao,ZHAO Chun,et al.Pachydermoperiostosis:a Pedigree Report and Gene Mutation Analysis[J].The Chinese Journal of Dermatovenereology,2019,(10):1116-1120.[doi:10.13735/j.cjdv.1001-7089.201901199]
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骨膜增生厚皮症1家系报告及基因突变分析
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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10期
页码:
1116-1120
栏目:
论著
出版日期:
2019-09-13

文章信息/Info

Title:
Pachydermoperiostosis:a Pedigree Report and Gene Mutation Analysis
文章编号:
1001-7089(2019)10-1116-05
作者:
何娟张淼赵莼刘人心时立新
贵州医科大学附属医院内分泌代谢病科,贵州 贵阳 550004
Author(s):
HE JuanZHANG MiaoZHAO ChunLIU RenxinSHI Lixin
(Department of Endocrinology and Metabolism,the Affiliated Hospital of Guizhou Medical University,Guiyang 550004,China)
关键词:
骨膜增生厚皮症 原发性肥大性骨关节病 SLCO2A1基因 基因突变
Keywords:
Pachydermoperiostosis Primary hypertrophic osteoarthropathy SLCO2A1 gene Gene mutation
分类号:
R 758.5
DOI:
10.13735/j.cjdv.1001-7089.201901199
文献标志码:
A
摘要:
目的 报告骨膜增生厚皮症(PDP)1家系,并检测其基因突变情况,为开展遗传学咨询提供依据。方法 收集家系成员临床资料,提取先证者及其亲属外周血DNA,利用芯片捕获高通量测序方法对PDP相关致病基因进行筛查,并结合Sanger测序验证的方法检测该家系的基因突变。结果 先证者符合完全型PDP的临床诊断,基因筛查检出SLCO2A1基因第13号外显子上c.1771C>T(p.Arg591*)纯合突变。该家系中另4人表现型正常,但其中3人携带该基因位点的杂合突变,提示该家系符合常染色体隐性遗传模式。结论 SLCO2A1基因的纯合突变(c.1771C>T)为本研究中PDP的遗传学病因。
Abstract:
Objective To report a pedigree with pachydermoperiostosis(PDP)and to detect the pathogenic mutations.Methods The clinical phenotypic data of all family members were collected and the genomic DNA was extracted from the peripheral blood samples.PDP-related pathogenic genes were screened by high throughput genomic sequencing and the specific gene mutation in the pedigree was confirmed by Sanger sequencing.Results The proband was clinically diagnosed as the complete type of PDP,with homozygous mutation at c.1771C>T(p.Arg591*)on exon 13 of the SLCO2A1 gene identified by gene sequencing.The other four family members had normal phenotypes,but three of them carried the heterozygous mutation at the same locus,suggesting the autosomal recessive inheritance pattern of this pedigree. Conclusion The homozygous mutation of the SLCO2A1 gene(c.1771C>T)is the genetic etiology of PDP in this study.

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相似文献/References:

[1]张悦,陈宾,郑佳宁,等.原发性完全型骨膜增生厚皮症1例[J].中国皮肤性病学杂志,2017,(08):879.[doi:10.13735/j.cjdv.1001-7089.201702017]
 ZHANG Yue,CHEN Bin,ZHEN Jia-ning,et al.A Case of Pachydermoperiostosis[J].The Chinese Journal of Dermatovenereology,2017,(10):879.[doi:10.13735/j.cjdv.1001-7089.201702017]

备注/Memo

备注/Memo:
[基金项目] 贵州省临床重点专科培育项目(SZD-2016-01)
[作者单位] 贵州医科大学附属医院内分泌代谢病科,贵州 贵阳 550004
[通讯作者] 张淼,E-mail:20057544@qq.com
更新日期/Last Update: 2019-09-12