Analysis of FBN1 gene mutations in two pedigrees affected with Marfan syndrome.
10.3760/cma.j.issn.1003-9406.2019.06.008
- Author:
Lan YANG
1
,
2
;
Xiaoxin GUO
3
,
4
;
Linxin JIANG
5
;
Bo GONG
3
,
4
;
Chao QU
1
,
2
Author Information
1. School of Clinical Medicine, Southwest Medical University, Luzhou, Sichuan 646000, China
2. Department of Ophthalmology, Sichuan Provincial People's Hospital Affiliated to University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China. Email: lucyqujefferson@hotmail.com.
3. Department of Ophthalmology, Sichuan Provincial People's Hospital Affiliated to University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China
4. Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Provincial People's Hospital Affiliated to University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China.
5. School of Clinical Medicine, Southwest Medical University, Luzhou, Sichuan 646000, China.
- Publication Type:Journal Article
- MeSH:
DNA Mutational Analysis;
Exons;
Fibrillin-1;
genetics;
Fibrillins;
Humans;
Marfan Syndrome;
genetics;
Mutation;
Pedigree
- From:
Chinese Journal of Medical Genetics
2019;36(6):566-570
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To detect mutations of fibrillin-1 (FBN1) gene in two pedigrees affected with Marfan syndrome (MFS).
WETHODS:Peripheral blood samples were collected from MFS patients and their healthy family members for extracting genomic DNA. All of the 65 exons of the FBN1 gene were analyzed by next-generation sequencing. PolyPhen-2 and SIFT was used to predict structural and functional changes in FBN1 protein.
RESULTS:Patients from both pedigrees presented ocular and skeletal manifestations suggestive of MFS. Two novel heterozygous mutations of the FBN1 gene, including c.1879C>T (p.R627C) in exon 16 and c.2584T>C (p.C862R) in exon 22, were identified. The same mutations were not found among unaffected members. By bioinformatic analysis, the mutations may affect the structure and function of the FBN1 protein.
CONCLUSION:The c.1879C>T and c.2584T>C mutations of the FBN1 gene probably account for the disease in the two pedigrees, respectively. Identification of the c.2584T>C has enriched the spectrum of FBN1 gene mutations.
