title: A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene.
abstract: OBJECTIVE
  To characterize the molecular defect in the TGFBI gene in a Chinese family affected with an atypical lattice corneal dystrophy.
  
  
  METHODS
  Case report and experimental study.
  
  
  METHODS
  Molecular genetic analysis was performed on the DNA extracted from peripheral leucocytes from a Chinese family with atypical lattice corneal dystrophy. Fifty normal unrelated subjects of Chinese origin were used as controls. All exons of the TGFBI gene were amplified by polymerase chain reaction and directly sequenced.
  
  
  RESULTS
  Bilateral, symmetrical, ridgy round pattern of opacities with uneven surfaces and thin lattice lines were noted in the proband. Analysis of exon 14 revealed a heterozygous T to A transition on codon 625. The mutation was not detected in the unaffected family member and 50 unaffected individuals.
  
  
  CONCLUSIONS
  The novel TGFBI gene mutation (V625D) is associated with an early-onset variant of lattice corneal dystrophy. This case highlights the utility of molecular genetic analysis in differentiating corneal dystrophies associated with an atypical phenotype from nondystrophic conditions.
authors.affiliation: Department of Ophthalmology, Third Hospital, Peking University, Beijing, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Tian
authors.forename: Keiko
authors.initials: K
authors.lastname: Fujiki
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhang
authors.forename: Akira
authors.initials: A
authors.lastname: Murakami
authors.forename: Qin
authors.initials: Q
authors.lastname: Li
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kanai
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Yansheng
authors.initials: Y
authors.lastname: Hao
authors.forename: Zhizhong
authors.initials: Z
authors.lastname: Ma
mesh_terms: D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D016212:Transforming Growth Factor beta / Q000235:genetics*; D014792:Visual Acuity; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein