title: A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree.
abstract: BACKGROUND
  To investigate the molecular defects in a four-generation Chinese pedigree affected with Thiel-Behnke corneal dystrophy (TBCD). And to further study the relationship between genetic mutation and clinical manifestations.
  
  
  METHODS
  Individuals of the pedigree were recruited for extensive ophthalmic examinations. Histological studies of two corneal buttons obtained from lamellar keratoplasty were conducted. Peripheral blood was collected in EDTA for genomic DNA isolation from leukocytes of all affected and unaffected members. All 17 exons of the TGFBI gene were screened for mutations by polymerase chain reaction and direct DNA sequencing.
  
  
  RESULTS
  Clinical examinations revealed a typical pattern of honeycomb-like TBCD. Histopathology study demonstrated eosinophilic deposits that were congo-red-positive and did not stain with periodic acid Schiff or Masson's trichrome. Genetic analysis disclosed a heterozygous p. Arg555Trp mutation resulted from a missense c. 1663C > T nucleotide change in exon 12 of TGFBI gene in all affected members. Morever, a second rare variant in exon 6 of the TGFBI gene (p. Arg257Trp) also cosegregated within this family and has been confirmed to be a single nucleotide polymorphism (SNP) not previously reported.
  
  
  CONCLUSIONS
  The p. Arg555Trp mutation of the TGFBI gene was associated with TBCD, which revealed a novel phenotype-genotype correlation within the mutational spectrum of phenotypically diverse corneal dystrophies.
authors.affiliation: Eye Center, Second Affiliated Hospital of Zhejiang University School of Medicine, No.88 Jiefang Rd, Hangzhou, 310009, China. yuyinhui5407@163.com.|Zhejiang Provincial Key Laboratory of Ophthalmology, Hangzhou, China. yuyinhui5407@163.com.
authors.forename: Yinhui
authors.initials: Y
authors.lastname: Yu
authors.affiliation: Eye Center, Second Affiliated Hospital of Zhejiang University School of Medicine, No.88 Jiefang Rd, Hangzhou, 310009, China. qpeijin@zju.edu.cn.
authors.forename: Peijin
authors.initials: P
authors.lastname: Qiu
authors.affiliation: Eye Center, Second Affiliated Hospital of Zhejiang University School of Medicine, No.88 Jiefang Rd, Hangzhou, 310009, China. m13758225755@163.com.|Zhejiang Provincial Key Laboratory of Ophthalmology, Hangzhou, China. m13758225755@163.com.
authors.forename: Yanan
authors.initials: Y
authors.lastname: Zhu
authors.affiliation: Eye Center, Second Affiliated Hospital of Zhejiang University School of Medicine, No.88 Jiefang Rd, Hangzhou, 310009, China. mercury1105@163.com.|Zhejiang Provincial Key Laboratory of Ophthalmology, Hangzhou, China. mercury1105@163.com.
authors.forename: Jinyu
authors.initials: J
authors.lastname: Li
authors.affiliation: Eye Center, Second Affiliated Hospital of Zhejiang University School of Medicine, No.88 Jiefang Rd, Hangzhou, 310009, China. wumenghan0530@163.com.|Zhejiang Provincial Key Laboratory of Ophthalmology, Hangzhou, China. wumenghan0530@163.com.
authors.forename: Menghan
authors.initials: M
authors.lastname: Wu
authors.affiliation: Department of Pathology, Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China. dongstop@163.com.
authors.forename: Buyi
authors.initials: B
authors.lastname: Zhang
authors.affiliation: Eye Center, Second Affiliated Hospital of Zhejiang University School of Medicine, No.88 Jiefang Rd, Hangzhou, 310009, China. xlren@zju.edu.cn.|Zhejiang Provincial Key Laboratory of Ophthalmology, Hangzhou, China. xlren@zju.edu.cn.
authors.forename: Ke
authors.initials: K
authors.lastname: Yao
mesh_terms: D000328:Adult; D002648:Child; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D005820:Genetic Testing; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein