Recurrent FBN1 Mutation (R62C) in a Chinee Family With Iolated Ectopia Lenti

Purpoe To examine the fibrillin-1 (FBN1) gene for mutation in member of a Chinee family with iolated ectopia lenti. Deign Clinically relevant laboratory invetigation. Method Family member underwent clinical examination. Genomic DNA wa extracted from leukocyte of peripheral blood from the available member and 100 control for mutation analyi. The 65 exon of FBN1 were amplified by polymerae chain reaction and creened for mutation by a combination of denaturing high-performance liquid chromatography analyi and direct DNA equencing. Reult A mutation, c.184C→T in exon 2 of FBN1, which reult in ubtitution of arginine by cyteine at poition 62 of the fibrillin-1 protein (p.R62C) in all affected family member but in none of the unaffected individual. Concluion A recurrent mutation of FBN1 gene reulted in an arginine-to-cyteine reidue (p.R62C), i reponible for the patient with iolated ectopia lenti in a Chinee family.