title: An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.
abstract: OBJECTIVE
  To characterize the molecular defects in the TGFBI gene in a Chinese family with an unusual phenotype of Reis-Bücklers corneal dystrophy (RBCD).
  
  
  METHODS
  Three generations of the family with RBCD were enrolled in the present study. In addition to ophthalmologic examinations, polymerase chain reaction (PCR) amplification and nucleotide sequencing of exons of TGFBI were performed. Exon 14 was also sequenced in 100 healthy controls unrelated to the family for comparison.
  
  
  RESULTS
  The clinical features of the disease were characterized by geographic opacities in the anterior to mid stroma of the cornea. Molecular genetic analysis revealed a heterozygous point mutation at exon 14 (c.1915 G>A) in all affected members of the family. The unusual opacities involving the anterior to mid-cornea stroma were different from the phenotypic features of families previously reported to have the same genetic change.
  
  
  CONCLUSIONS
  We speculate that this disorder is a variant of RBCD. This finding may expand our knowledge about RBCD and facilitate diagnosis of corneal dystrophies associated with atypical clinical features.
authors.affiliation: Department of Ophthalmology, Harbin Medical University the 2nd Affiliated Hospital, Harbin, China.
authors.forename: Dandan
authors.initials: D
authors.lastname: Li
authors.forename: Yanhua
authors.initials: Y
authors.lastname: Qi
authors.forename: Li
authors.initials: L
authors.lastname: Wang
authors.forename: Hui
authors.initials: H
authors.lastname: Lin
authors.forename: Nan
authors.initials: N
authors.lastname: Zhou
authors.forename: Liming
authors.initials: L
authors.lastname: Zhao
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001224:Aspartic Acid / Q000235:genetics; D001483:Base Sequence; D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016212:Transforming Growth Factor beta / Q000737:chemistry / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D001224:Aspartic Acid; D016326:Extracellular Matrix Proteins; D005998:Glycine; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein