Identification of a novel FBN1 variant in a pedigree affected with Marfan syndrome
10.3760/cma.j.issn.1003-9406.2019.11.013
- VernacularTitle: 一个马凡综合征家系的FBN1基因新变异及其生物信息学分析
- Author:
Jialing RONG
1
;
Shiqi DONG
2
;
Chen WANG
3
;
Siying HE
1
;
Jing LUO
1
;
Menglan LI
1
;
Qianyun DENG
1
;
Ming YAN
2
Author Information
1. Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan, Hubei 430071, China
2. Department of Ophthalmology, Zhongnan Hospital of Wuhan University, Wuhan, Hubei 430071, China
3. Hubei Provincial Center for Prenatal Diagnosis and Birth Health Research, Wuhan, Hubei 430001, China
- Publication Type:Clinical Trail
- Keywords:
Marfan syndrome;
Gene variant;
Bioinformatics analysis;
Targeted exome sequencing
- From:
Chinese Journal of Medical Genetics
2019;36(11):1107-1110
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis for a pedigree affected with Marfan syndrome (MFS).
Methods:Clinical data of the patients was collected.With genomic DNA extracted from peripheral blood samples, potential mutation was detected by targeted exome sequencing.Candidate variants were validated by Sanger sequencing and bioinformatic analysis.
Results:Targeted exome sequencing and Sanger sequencing revealed a missense c. 649T>C(p.Trp217Arg) variant in the exon 7 of FBN1 gene, which was unreported previously.Bioinformatics analysis suggested that the variant can cause amino acid replacement and affect the structure and function of fibrillin-1.
Conclusion:A novel missense variant of the FBN1 gene was identified, which probably underlies the autosomal dominant MFS in this pedigree.
