title: Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I.
abstract: OBJECTIVE
  To describe a Japanese family with lattice corneal dystrophy type I, which segregates with a novel mutation, Leu518Pro of the beta ig-h3 gene.
  
  
  METHODS
  DNA was extracted from leukocytes in four members (three affected and one unaffected) of a Japanese family with lattice corneal dystrophy type I. Exon 12 of the beta ig-h3 gene was amplified and analyzed with a molecular biologic method. Clinical data were also collected.
  
  
  RESULTS
  Three generations of this family have been positively diagnosed with lattice corneal dystrophy, indicating autosomal dominant inheritance. We found a heterozygous point mutation that segregates with the disease phenotype. It was a single base-pair transition (CTG to CCG, Leu to Pro).
  
  
  CONCLUSIONS
  Although it is extremely rare compared with the Arg124Cys mutation of the beta ig-h3 gene, Leu518Pro mutation of the beta ig-h3 also causes lattice corneal dystrophy type I.
authors.affiliation: Department of Ophthalmology, Ishida Eye Clinic, Joetsu, Niigata, Japan. isidaeye@white.plala.or.jp
authors.forename: S
authors.initials: S
authors.lastname: Endo
authors.forename: T H
authors.initials: TH
authors.lastname: Nguyen
authors.forename: K
authors.initials: K
authors.lastname: Fujiki
authors.forename: Y
authors.initials: Y
authors.lastname: Hotta
authors.forename: K
authors.initials: K
authors.lastname: Nakayasu
authors.forename: T
authors.initials: T
authors.lastname: Yamaguchi
authors.forename: N
authors.initials: N
authors.lastname: Ishida
authors.forename: A
authors.initials: A
authors.lastname: Kanai
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D004247:DNA / Q000032:analysis; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins; D005260:Female; D006801:Humans; D015948:Keratoplasty, Penetrating; D007930:Leucine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011392:Proline / Q000235:genetics; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D004247:DNA; D016326:Extracellular Matrix Proteins; D007930:Leucine; D009363:Neoplasm Proteins; D011392:Proline; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein