An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease

• Published in: Journal of human genetics Vol. 53; no. 11-12; pp. 1007 - 1011
• Main Authors: Guo, Dong-Chuan, Gupta, Prateek, Tran-Fadulu, Van, Guidry, Tera V, Leduc, Magalie S, Schaefer, Frederick V, Milewicz, Dianna M
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.12.2008
• Subjects: Adult; Base Sequence; Child; Deoxyribonucleic acid; DNA; DNA Mutational Analysis - methods; DNA sequencing; Exons; Exons - genetics; Female; Fibrillin-1; Fibrillins; Fibroblasts; Genetic analysis; Genetic Predisposition to Disease; Humans; Insertion; Introns - genetics; Male; Marfan syndrome; Marfan Syndrome - genetics; Microfilament Proteins - genetics; Middle Aged; Molecular Sequence Data; Mutation; Mutation - genetics; Point mutation; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger - genetics; RNA, Messenger - metabolism

Marfan syndrome (MFS) results from heterozygous mutations in FBN1. However, genetic analyses of deoxyribonucleic acid (DNA) from approximately 10-30% of MFS patients who meet diagnostic criteria do not reveal an identifiable FBN1 mutation. In a patient who met the diagnostic criteria for MFS, bidire...