title: A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.
abstract: OBJECTIVE
  To identify mutations within the TGFBI gene in a Chinese family with lattice corneal dystrophy type I (LCD I).
  
  
  METHODS
  Genomic DNA of three affected, four unaffected family members and 50 normal individuals was extracted from peripheral leukocytes. All exons of TGFBI were amplified by polymerase chain reaction (PCR) methods and direct sequencing was carried out for mutation analysis.
  
  
  RESULTS
  A missense mutation (1565T-->A) in exon12 of TGFBI led to an amino acid substitution I522N in the TGFB-induced protein in all affected family members, but the mutation was not detected in normal subjects of the family and control individuals.
  
  
  CONCLUSIONS
  We conclude that the novel mutation I522N causes lattice corneal dystrophy type I in the studied family. This is the first report of the I522N mutation within TGFBI in LCD I worldwide.
authors: Department of Ophthalmology, Harbin Medical University the 2nd Affiliated Hospital, Harbin, China.
authors: Chunmei
authors: C
authors: Zhang
authors: Guang
authors: G
authors: Zeng
authors: Hui
authors: H
authors: Lin
authors: Dandan
authors: D
authors: Li
authors: Liming
authors: L
authors: Zhao
authors: Nan
authors: N
authors: Zhou
authors: Yanhua
authors: Y
authors: Qi
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016212:Transforming Growth Factor beta / Q000737:chemistry / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein