Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1

Abstract

1.5 Mutational spectrum Over 1700 different disease-causing mutations have been described (UMD database1; Collod-Beroud et al2; Collod-Beroud G, personal communication). All types of mutations have been reported. From a study of 1013 probands with a pathogenic FBN1 mutation, the distribution was as follows: 56% missense mutations; 17% frameshift mutations; 14% nonsense mutations; 11% splice mutations; 2% in-frame deletions.3