Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families.

ABSTRACT:

Purpose

To identify the molecular defects in the fibrillin-1 gene (FBN1) in two Chinese families with ectopia lentis (EL) and marfanoid habitus.

Methods

Five patients and eight non-carriers in the two families underwent complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from leukocytes of venous blood of these individuals in the families as well as 100 healthy normal controls. Polymerase chain reaction (PCR) amplification and direct sequencing of all 65 coding exons of FBN1 were analyzed. The functional consequences of the mutations were analyzed with various genomic resources.

Results

Two novel mutations of FBN1 were identified in our study. One is a splice defect in intron 17 (IVS 17-1G>T) adjacent to exon 18. The other is c.61

SUBMITTER: Zhao L 

PROVIDER: S-EPMC2672146 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature