title: Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy.
abstract: OBJECTIVE
  To determine whether Japanese patients with Fuchs' endothelial corneal dystrophy (FECD) and posterior polymorphous dystrophy (PPMD) carry mutations in the COL8A2 gene, and to investigate the possible pathogenicity of the COL8A2 gene in these corneal dystrophies.
  
  
  METHODS
  DNA analysis of the COL8A2 gene was performed in 15 unrelated Japanese patients with FECD, and 5 patients with PPMD using polymerase chain reaction and direct sequencing. Mutation screenings were also performed in 36 unrelated normal volunteers as controls, as well as slit-lamp and specular microscopy.
  
  
  RESULTS
  Two types of heterozygous missense mutations of the COL8A2 gene (R155Q and T502M) in 5 of 15 FECD probands (R155Q, 3/30 chromosomes, 10.0%; T502M, 3/30 chromosomes, 10.0%) were found. No mutation was detected in the coding region of the COL8A2 gene in the remaining 10 patients with FECD nor in any of the 5 patients with PPMD. These two mutations were also found in normal Japanese volunteers (R155Q, 5/72 chromosomes, 6.9%; T502M, 11/70 chromosomes, 15.7%). The chromosomal frequency of the two mutations was not significant between the patients and normal controls.
  
  
  CONCLUSIONS
  The R155Q and T502M mutations of COL8A2 may not be the causative defect in the Japanese FECD and PPMD patients examined in this study.
authors.affiliation: Department of Ophthalmology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan. kobaya@kenroku.kanazawa-u.ac.jp
authors.forename: Akira
authors.initials: A
authors.lastname: Kobayashi
authors.forename: Keiko
authors.initials: K
authors.lastname: Fujiki
authors.forename: Akira
authors.initials: A
authors.lastname: Murakami
authors.forename: Takuji
authors.initials: T
authors.lastname: Kato
authors.forename: Li-Zhong
authors.initials: LZ
authors.lastname: Chen
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Onoe
authors.forename: Kiyoo
authors.initials: K
authors.lastname: Nakayasu
authors.forename: Mayumi
authors.initials: M
authors.lastname: Sakurai
authors.forename: Mami
authors.initials: M
authors.lastname: Takahashi
authors.forename: Kazuhisa
authors.initials: K
authors.lastname: Sugiyama
authors.forename: Atsushi
authors.initials: A
authors.lastname: Kanai
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001120:Arginine / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D024102:Collagen Type VIII / Q000235:genetics*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D005260:Female; D005642:Fuchs' Endothelial Dystrophy / Q000235:genetics*; D005787:Gene Frequency; D005973:Glutamine / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D013912:Threonine / Q000235:genetics
chemical_list: C443712:COL8A2 protein, human; D024102:Collagen Type VIII; D005973:Glutamine; D013912:Threonine; D001120:Arginine; D008715:Methionine