Rothmund-Thomson综合征一家系基因突变检测

doi:10.3760/cma.j.issn.0412-4030.2019.09.004

中华皮肤科杂志 ›› 2019, Vol. 52 ›› Issue (9): 607-610.doi: 10.3760/cma.j.issn.0412-4030.2019.09.004

Rothmund-Thomson综合征一家系基因突变检测

王建波¹ 杨利敏² 王晨¹ 贾宁³ 李明⁴ 李建国¹ 张守民¹ 李振鲁¹

¹河南省人民医院郑州大学人民医院皮肤科 450003；²新乡医学院第一附属医院滑县医院皮肤科，河南安阳 456400；³安徽医科大学生物化学与分子生物学实验室，合肥 230000；⁴上海交通大学医学院附属新华医院皮肤科 200082

收稿日期:2018-12-11 修回日期:2019-03-03 出版日期:2019-09-15 发布日期:2019-08-30
通讯作者: 张守民 E-mail:henanpifu@sina.com
基金资助:
河南省科技发展计划项目（182102310580）

Mutation analysis in a pedigree with Rothmund-Thomson syndrome

Wang Jianbo¹, Yang Limin², Wang Chen¹, Jia Ning³, Li Ming⁴, Li Jianguo¹, Zhang Shoumin¹, Li Zhenlu¹

¹Department of Dermatology, Henan Provincial People′s Hospital, Zhengzhou University People′s Hospital, Zhengzhou 450003, China; ²Department of Dermatology, Huaxian Hospital, The First Affiliated Hospital of Xinxiang Medical University, Anyang 456400, Henan, China; ³Laboratory of Molecular Biology and Biochemistry, Key Laboratory of Gene Research of Anhui Province, Anhui Medical University, Hefei 230000, China; ⁴Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200082, China

Received:2018-12-11 Revised:2019-03-03 Online:2019-09-15 Published:2019-08-30
Contact: Zhang Shoumin E-mail:henanpifu@sina.com
Supported by:
Henan Provincial Project of Science and Technology（182102310580）

摘要/Abstract

摘要： 【摘要】目的对Rothmund-Thomson综合征一家系患者及其家族成员进行基因突变检测。方法收集中国汉族Rothmund-Thomson综合征一家系姐弟2例患者及家族成员临床资料，同时采集其外周血和100例无亲缘关系的健康对照的外周血标本，提取DNA，采用PCR扩增RECQL4基因编码区的全部外显子，应用二代皮肤靶向测序包检测患儿的基因突变，Sanger测序验证。结果 2例患者的RECQL4基因存在2个杂合突变：剪接位点突变c.2886-1G>A和插入突变c.1013_1014insC，两突变分别来自患者父亲和母亲。100例健康对照及患儿兄长均未发现这两种突变。结论 RECQL4基因的剪接位点突变c.2886-1G>A和插入突变c.1013_1014insC可能为引起该家系患者临床表型的病因。

关键词: Rothmund-Thomson综合征, RECQL4基因, 皮肤靶向测序包

Abstract: 【Abstract】 Objective To detect gene mutations in a pedigree with Rothmund-Thomson syndrome（RTS）. Methods Clinical data were collected from two patients （an older sister and a younger brother） and their family members in a Chinese pedigree of Han nationality with RTS. Blood samples were obtained from the two patients, their unaffected older brother, their parents and 100 unrelated healthy controls. DNA was extracted, and all the exons in the encoding area of the RECQL4 gene were amplified by PCR. Gene mutations were detected by a skin-targeted next-generation sequencing panel, and verified by Sanger sequencing. Results Two heterozygous mutations were identified in the RECQL4 gene of the two patients, including a splice site mutation c.2886-1G>A and an insertion mutation c.1013_1014insC, which were inherited from the father and mother of the patients respectively. Meanwhile, neither of the two mutations was observed in 100 unrelated healthy controls or the older brother of the patients. Conclusion The splice site mutation c.2886-1G>A and the insertion mutation c.1013_1014insC in the RECQL4 gene may contribute to the clinical phenotype of the patients in this pedigree with RTS.

Key words: Rothmund-Thomson syndrome, RECQL4 gene, Skin targeted sequencing panel

王建波杨利敏王晨贾宁李明李建国张守民李振鲁. Rothmund-Thomson综合征一家系基因突变检测[J]. 中华皮肤科杂志, 2019, 52(9): 607-610.doi:10.3760/cma.j.issn.0412-4030.2019.09.004

Wang Jianbo, Yang Limin, Wang Chen, Jia Ning, Li Ming, Li Jianguo, Zhang Shoumin, Li Zhenlu. Mutation analysis in a pedigree with Rothmund-Thomson syndrome[J]. Chinese Journal of Dermatology, 2019, 52(9): 607-610.doi:10.3760/cma.j.issn.0412-4030.2019.09.004

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Rothmund-Thomson综合征一家系基因突变检测

Mutation analysis in a pedigree with Rothmund-Thomson syndrome

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