Analysis of FBN1 gene mutations in two pedigrees affected with Marfan syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 566-570, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-771968
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
DNA Mutational Analysis
/
Exons
/
Fibrillins
/
Fibrillin-1
/
Genetics
/
Marfan Syndrome
/
Mutation
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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