Mutation analysis in a pedigree with Rothmund-Thomson syndrome
10.3760/cma.j.issn.0412-4030.2019.09.004
- VernacularTitle: Rothmund-Thomson综合征一家系基因突变检测
- Author:
Jianbo WANG
1
;
Limin YANG
2
;
Chen WANG
1
;
Ning JIA
3
;
Ming LI
4
;
Jianguo LI
1
;
Shoumin ZHANG
1
;
Zhenlu LI
1
Author Information
1. Department of Dermatology, Henan Provincial People′s Hospital, Zhengzhou University People′s Hospital, Zhengzhou 450003, China
2. Department of Dermatology, Huaxian Hospital, The First Affiliated Hospital of Xinxiang Medical University, Anyang 456400, Henan, China
3. Laboratory of Molecular Biology and Biochemistry, Key Laboratory of Gene Research of Anhui Province, Anhui Medical University, Hefei 230000, China
4. Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200082, China
- Publication Type:Journal Article
- Keywords:
Rothmund-Thomson syndrome;
RECQL4 gene;
Skin targeted sequencing panel
- From:
Chinese Journal of Dermatology
2019;52(9):607-610
- CountryChina
- Language:Chinese
-
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.
