Key result
DHPLC identifies FBN1 mutations in 76% of previously unscreened definitive Marfan syndrome cases.
Why the study?
Mutation detection in the large FBN1 gene causing Marfan syndrome is technically challenging, necessitating development of an efficient screening method.
Does denaturing high-performance liquid chromatography (DHPLC) efficiently detect FBN1 mutations in individuals with Marfan syndrome and related disorders?
Population
94 DNA samples from individuals with Marfan syndrome or related connective tissue disorders
Comparison
DHPLC mutation screening vs other mutation detection methods in subset
Design
Observational exon-by-exon mutation screening study
Authors
Loading...
DHPLC may aid FBN1 screening in Marfan syndrome; leaves open its place versus sequencing in clinical diagnostics.
Observational (n=94)
Does denaturing high-performance liquid chromatography (DHPLC) efficiently detect FBN1 mutations in individuals with Marfan syndrome and related disorders?
DHPLC is a highly efficient method for detecting FBN1 mutations in patients with Marfan syndrome, improving detection rates even in samples previously screened by other methods.
Oefner et al. (1997) conducted an observational in Marfan syndrome and related connective tissue disorders (n=94). Denaturing high-performance liquid chromatography (DHPLC) was evaluated on FBN1 mutation detection rate in previously unscreened definitive MFS cases. Denaturing high-performance liquid chromatography (DHPLC) effectively detected FBN1 mutations, achieving a 76% detection rate in previously unscreened definitive Marfan syndrome cases.
Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context: