Original Article
Analysis of FBN1 gene mutations in two pedigrees affected with Marfan syndrome
Yang Lan, Guo Xiaoxin, Jiang Linxin, Gong Bo, Qu Chao
Published 2019-06-10
Cite as Chin J Med Genet, 2019, 36(6): 566-570. DOI: 10.3760/cma.j.issn.1003-9406.2019.06.008
Abstract
ObjectiveTo detect mutations of fibrillin-1 (FBN1) gene in two pedigrees affected with Marfan syndrome (MFS).
MethodsPeripheral 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.
ResultsPatients 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.
ConclusionThe c. 1879C>T and c. 2584T>C mutations of theFBN1 gene probably account for the disease in the two pedigrees, respectively. The c. 2584T>C has enriched the spectrum ofFBN1 gene mutations.
Key words:
Marfan syndrome; FBN1 gene; Heterozygous mutation; Next-generation sequencing
Contributor Information
Yang Lan
School of Clinical Medicine, Southwest Medical University, Luzhou, Sichuan 646000, China
Department of Ophthalmology, Sichuan Provincial People’s Hospital Affiliated to University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China
Guo Xiaoxin
Department of Ophthalmology, Sichuan Provincial People’s Hospital Affiliated to University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China
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
Jiang Linxin
School of Clinical Medicine, Southwest Medical University, Luzhou, Sichuan 646000, China
Gong Bo
Department of Ophthalmology, Sichuan Provincial People’s Hospital Affiliated to University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China
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
Qu Chao
School of Clinical Medicine, Southwest Medical University, Luzhou, Sichuan 646000, China
Department of Ophthalmology, Sichuan Provincial People’s Hospital Affiliated to University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, China
