title: [Analysis of TGFBI gene mutation in a Chinese family with atypical Reis-Buckler corneal dystrophy].
abstract: OBJECTIVE
  To identify the TGFBI gene mutation and the relationship between genotype and phenotype of a Chinese family with atypical Reis-Buckler corneal dystrophy (RBCD).
  
  
  METHODS
  Four patients, two non-carrier relatives of the family were enrolled in the present study. In addition to ophthalmologic examinations, PCR amplification and DNA sequencing of exons 4, 11, 12, and 14 of the TGFBI gene were carried out. Exon 14 was also sequenced in 100 healthy controls.
  
  
  RESULTS
  A G to A transition at codon 623 in all affected members was identified. This mutation resulted in a substitution of glycine (GGC) to aspartic acid (GAC) at the protein level.None of the healthy family members, or any of the 100 control subjects carried this mutation.
  
  
  CONCLUSIONS
  The G623D mutation of the TGFBI gene caused an atypical Reis-Buckler corneal dystrophy in this family. This mutation is reported in Chinese for the first time.
authors.affiliation: Department of Ophthalmology, the Fourth Affiliated Hospital, Harbin Medical University, Harbin, Heilongjiang, 150001 PR China.
authors.forename: Dan-dan
authors.initials: DD
authors.lastname: Li
authors.forename: Yan-hua
authors.initials: YH
authors.lastname: Qi
authors.forename: Qing
authors.initials: Q
authors.lastname: Han
authors.forename: Hui
authors.initials: H
authors.lastname: Lin
authors.forename: Li-ming
authors.initials: LM
authors.lastname: Zhao
authors.forename: Chun-mei
authors.initials: CM
authors.lastname: Zhang
mesh_terms: D044466:Asian People / Q000235:genetics; D001224:Aspartic Acid / Q000235:genetics; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D003319:Corneal Stroma / Q000378:metabolism; D005091:Exons / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D016212:Transforming Growth Factor beta / 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