title: Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy.
abstract: OBJECTIVE
  To search for mutations in the TSPAN12 gene in 90 Japanese probands with familial exudative vitreoretinopathy (FEVR) and their family members and to determine the types and frequencies of the mutations.
  
  
  METHODS
  Laboratory investigation and clinical case analyses.
  
  
  METHODS
  Direct sequencing after polymerase chain reaction of the coding exons of TSPAN12 was performed for 90 probands with FEVR and some of their family members. The clinical signs and symptoms that were characteristic of individuals with TSPAN12 mutations were determined.
  
  
  RESULTS
  Three families were found to carry 2 mutations in TSPAN12. One of these mutations was a new missense change, L245P, and the other was an already reported nonsense mutation, L140X, in 2 families. Mutations in TSPAN12 accounted for 3% of Japanese FEVR patients and 8% of the FEVR families who did not have mutations in any of the known FEVR genes, FZD4, LRP5, and NDP. The clinical signs and symptoms varied among the patients, but the retinal findings with TSPAN12 mutations were not different from those with mutations in the known FEVR-causing genes.
  
  
  CONCLUSIONS
  Mutant TSPAN12 is responsible for approximately 3% of FEVR patients in Japan. The results provide further evidence that mutations in TSPAN12 are FEVR causing and that the gene products most likely play a role in the development of retinal vessels.
authors.affiliation: Department of Ophthalmology, University of Occupational and Environmental Health Japan, Kitakyushu, Japan. kondohi@med.uoeh-u.ac.jp
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kondo
authors.forename: Shunji
authors.initials: S
authors.lastname: Kusaka
authors.forename: Aki
authors.initials: A
authors.lastname: Yoshinaga
authors.forename: Eiichi
authors.initials: E
authors.lastname: Uchio
authors.forename: Akihiko
authors.initials: A
authors.lastname: Tawara
authors.forename: Kenshi
authors.initials: K
authors.lastname: Hayashi
authors.forename: Tomoko
authors.initials: T
authors.lastname: Tahira
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D002648:Child; D018389:Codon, Nonsense; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012164:Retinal Diseases / Q000235:genetics*; D012171:Retinal Vessels / Q000473:pathology; D059470:Tetraspanins
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; C545100:TSPAN12 protein, human; D059470:Tetraspanins