Objectives To describe a novel mutation in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS).
Methods It has been reported that FBN1 mutations account for approximately 90% of Autosomal Dominant MFS. FBN1 mutations were analysed in a Chinese family of 5 members including 3 MFS patients. Informed consent was obtained from blood donors who participated in the study, and we collected 4ml of their peripheral blood. Genomic DNA was extracted from peripheral blood samples using the QIAamp DNA BloodMiNi Kit (Qiagen, Hilden, Germany). The coding exons of FBN1 were analysed by target gene FBN1 next-generation sequencing. One hundred controls and two sporadic patients were screened for a mutation in the FBN1 gene by Sanger sequencing.
Results A previously unreported novel nonsense mutation in FBN1 gene: c. 2671C > T (p. Gln891*) was identified in the Chinese family. The mutation was associated with the disease phenotype in patients, but not detected in their relatives or in the 100 normal controls and two sporadic patients.
Conclusions We indentified a novel nonsense mutation (c. 2671C > T, p. Gln891*, Het) in FBN1, which is the causative mutation for MFS in this family. Our results could provide prenatal guidance for the family members, further increase the information of FBN1 mutation database, which would be as a molecular detection for the MFS.