A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.

ABSTRACT:

Purpose

Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS).

Methods

It has been reported that FBN1 mutations account for approximately 90% of Autosomal Dominant MFS. FBN1 mutations were analyzed in a Chinese family of 36 members including 13 MFS patients. The genomic DNAs from blood leukocytes of the patients and their relatives were isolated and the entire coding region of FBN1 was amplified by PCR. The sequence of FBN1 was dertermined with an ABI 3100 Genetic Analyzer.

Results

A previously unreported the missense mutation G214S (caused by a 640 A→G heterozygous change) in FBN1 was identified in the Chinese family. The mutation was associated with the disease phenotype in patients, but not detected

SUBMITTER: Dong J 

PROVIDER: S-EPMC3261084 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature