PMID: 21976953Oct 7, 2011

Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome

Molecular Vision
Bo MengHuiping Yuan


To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with Marfan syndrome (MFS). Patients and family members were given complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from leukocytes of venous blood of six individuals in the family and 170 healthy Chinese individuals. All of the 65 coding exons and their flanking intronic boundaries of FBN1 were amplified in the proband by polymerase chain reaction and followed by direct sequencing. The mutation identified in the proband was screened in the other family members and the 170 healthy Chinese individuals by direct sequencing. Protein conservation analysis was performed in six species using an online ClustalW tool. Protein structure was modeled based on the Protein data bank and mutated in DeepView v4.0.1 to predict the functional consequences of the mutation. A novel heterozygous c.3703T>C change in exon 29 of FBN1 was detected in the proband, which resulted in the substitution of serine by proline at codon 1235 (p.S1235P). This mutation was also present in two family members but absent in the other, unaffected family members and the 170 healthy Chinese individuals. The mutant residue located in the calcium binding e...Continue Reading

Related Concepts

Pathogenic Aspects
Venous Blood Substance
Marfan Syndrome
Epidermal Growth Factor
Portion of Venous Blood
White Blood Cell Count Procedure
Polymerase Chain Reaction Analysis
FBN1 gene

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