title: A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family.
abstract: OBJECTIVE
  To characterize the disease-causing mutations in a Chinese family with ectopia lentis syndrome (ELS).
  
  
  METHODS
  Patients and their family members were given complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA samples were extracted from the peripheral blood of the pedigree members and 100 healthy controls. Mutation screening was performed in the fibrillin-1 (FBN1) gene by bi-directional sequencing of the amplified products. The mutation was analyzed using two bioinformatics methods.
  
  
  RESULTS
  A novel heterozygous c.305G>A mutation in exon 3 of FBN1 was detected. As a result of this change, a highly conserved cysteine residue was replaced by a tyrosine residue (p.C102Y). Another mutation was found in the same exon (c.303T>C), which did not change the amino acid sequence. Both mutations were discovered in each affected individual, but not in the unaffected family members, or in 100 ethnically matched controls. A bioinformatics analysis predicted that mutation p.C102Y would affect protein function.
  
  
  CONCLUSIONS
  In the first epidermal growth factor-like module, we identified a novel FBN1 mutation (p.C102Y), which caused ELS in the family. Our study presented a unique phenotype, including some distinct ophthalmic findings, such as hypoplasia of the iris and anisometropia. Our results expanded the mutation spectrum of FBN1 and enriched the overall knowledge of genotype-phenotype correlations due to FBN1 mutations.
authors.affiliation: Eye Center, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China ; Key Laboratory of Ophthalmology of Zhejiang Province, Hangzhou 310009, Zhejiang Province, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhai
authors.affiliation: Eye Center, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China ; Key Laboratory of Ophthalmology of Zhejiang Province, Hangzhou 310009, Zhejiang Province, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.affiliation: Eye Center, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China ; Key Laboratory of Ophthalmology of Zhejiang Province, Hangzhou 310009, Zhejiang Province, China.
authors.forename: Ya-Nan
authors.initials: YN
authors.lastname: Zhu
authors.affiliation: Eye Center, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China ; Key Laboratory of Ophthalmology of Zhejiang Province, Hangzhou 310009, Zhejiang Province, China.
authors.forename: Jin-Yu
authors.initials: JY
authors.lastname: Li
authors.affiliation: Eye Center, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China ; Key Laboratory of Ophthalmology of Zhejiang Province, Hangzhou 310009, Zhejiang Province, China.
authors.forename: Yin-Hui
authors.initials: YH
authors.lastname: Yu
authors.affiliation: Eye Center, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China ; Key Laboratory of Ophthalmology of Zhejiang Province, Hangzhou 310009, Zhejiang Province, China.
authors.forename: Kai-Ran
authors.initials: KR
authors.lastname: Lai
authors.affiliation: Eye Center, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, Zhejiang Province, China ; Key Laboratory of Ophthalmology of Zhejiang Province, Hangzhou 310009, Zhejiang Province, China.
authors.forename: Ke
authors.initials: K
authors.lastname: Yao
keywords: Marfan syndrome; cysteine residue; ectopia lentis syndrome; fibrillin-1