Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis

Mol Vis. 2011;17:3481-5. Epub 2011 Dec 29.

Abstract

Purpose: To identify the genetic defect in a Chinese family with autosomal dominant inherited ectopia lentis.

Methods: twenty-one family members, including seven patients underwent general physical and fully ophthalmic examinations. Genomic DNA was extracted from leukocytes of venous blood of these individuals in the family. Polymerase chain reaction (PCR) amplification and direct sequencing of all 65 coding exons of the fibrillin-1 gene (FBN1) were analyzed.

Results: Mutation screening in FBN1 identified a T>C transition at nucleotide position c,1759 leading to substitution of Cysteine for Arginine at codon 587 (C587R). This nucleotide substitution was not seen in any unaffected member of the family.

Conclusions: We detected a novel mutation in FBN1. Our result expands the mutation spectrum of FBN1 and help in the study of the molecular pathogenesis of Marfan syndrome and Marfan-related diseases.

MeSH terms

  • Adult
  • Aged
  • Amino Acid Substitution
  • Arginine / genetics
  • Asian Continental Ancestry Group*
  • Base Sequence
  • Cysteine / genetics
  • DNA Mutational Analysis
  • Ectopia Lentis / genetics*
  • Ectopia Lentis / pathology
  • Exons
  • Female
  • Fibrillin-1
  • Fibrillins
  • Genes, Dominant
  • Humans
  • Lens, Crystalline / metabolism*
  • Lens, Crystalline / pathology
  • Male
  • Marfan Syndrome / genetics
  • Marfan Syndrome / pathology
  • Microfilament Proteins / genetics*
  • Middle Aged
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*

Substances

  • FBN1 protein, human
  • Fibrillin-1
  • Fibrillins
  • Microfilament Proteins
  • Arginine
  • Cysteine

Supplementary concepts

  • Familial ectopia lentis