Identification of a novel mutation in FBN1 in a Chinese family with inherited ectopia lentis by targeted NGS.

AIMS: To diagnose a Chinese family with inherited ectopia lentis in a genetic method and analyze the genotype-phenotype correlation.

METHODS: The phenotype of each family member was identified by detailed clinical examination. We used targeted next generation sequencing (NGS) to identify mutations in FBN1 in an efficient and accurate way. The mutation in FBN1 was confirmed in all affected family members by Sanger sequencing.

RESULTS: A novel mutation c.385T>C (p.C129R) in FBN1 was identified in the proband by targeted NGS. The mutation was segregated in all affected family members and contributes to specific disease phenotypes. The same mutation was not found in other unaffected relatives and a 100 normal random population by Sanger sequencing.

CONCLUSIONS: Our study reports a novel mutation in FBN1 in a Chinese family and to diagnose this family as Marfan syndrome, we also expand the genotype-phenotype correlation of this disease.