PT  - JOURNAL ARTICLE
AU  - L C Adès
AU  - E A Haan
AU  - A F Colley
AU  - R I Richard
TI  - Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.
AID  - 10.1136/jmg.33.8.665
DP  - 1996 Aug 01
TA  - Journal of Medical Genetics
PG  - 665--671
VI  - 33
IP  - 8
4099  - http://jmg.bmj.com/content/33/8/665.short
4100  - http://jmg.bmj.com/content/33/8/665.full
SO  - J Med Genet1996 Aug 01; 33
AB  - Forty-four percent of the fibrillin-1 gene (FBN1) from 19 unrelated families with Marfan syndrome was screened for putative mutations by single strand conformational polymorphism (SSCP) analysis. Four novel mutations were identified and characterised in five people, three with classical Marfan syndrome (two from one family, and one from an unrelated family), one with a more severe phenotype, and one with neonatal Marfan syndrome. The base substitutions G2113A, G2132A, T3163G, and G3458A result in amino acid substitutions A705T, C711Y, C1055G, and C1152Y, respectively. C711Y, C1055G, and C1152Y lead to replacement of a cysteine by another amino acid; the latter two occur within epidermal growth factor-like motifs in exon 25 and 27, respectively. The A705T mutation occurs at exon 16 adjacent to the GT splice site. The A705T and C711Y mutations, at exon 16 and 17, respectively, are the first documented in the second transforming growth factor-beta 1 binding protein-like motif of FBN1.