{Reference Type}: Case Reports
{Title}: Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome.
{Author}: Kayhan G;Ergun MA;Ergun SG;Kula S;Percin FE;
{Journal}: Genet Test Mol Biomarkers
{Volume}: 22
{Issue}: 8
{Year}: Aug 2018
{Factor}: 1.736
{DOI}: 10.1089/gtmb.2017.0286
{Abstract}: <B>BACKGROUND: </B>Marfan syndrome (MS), a connective tissue disorder that affects ocular, skeletal, and cardiovascular systems, is caused by heterozygous pathogenic variants in FBN1. To date, over 1800 different pathogenic variants have been reported.<BR><B>METHODS: </B>In the present study, FBN1 sequence analysis was performed in a family and two unrelated patients with MS.<BR><B>RESULTS: </B>Three novel pathogenic variants were detected. Two of these variants [c.6610T>C; p.(Cys2204Arg) and c.1956T>G; p.(Cys652Trp)], which affect a cysteine residue, were associated with MS with ectopia lentis, whereas the mutation causing a premature stop codon [c.2506delA; p.(Ser836ValfsX10)] leads to a classical MS of a milder phenotype.<BR><B>CONCLUSIONS: </B>We anticipate that the three novel pathogenic variants identified in this study will provide further support for the clinical relevance of variants in the large FBN1 gene.