Kondo Hiroyuki
   Department   School of Medicine  Ophthalmology, Clinical Medical Sciences
Article types journal article
Language English
Peer review Peer reviewed
Title Mutations in the TSPAN12 gene in Japanese patients with familial exudative vitreoretinopathy.
Journal Formal name:American journal of ophthalmology
Abbreviation:Am J Ophthalmol
ISSN code:18791891/00029394
Domestic / ForeginForegin
Volume, Issue, Page 151(6),1095-1100.e1頁
Author and coauthor Kondo Hiroyuki, Kusaka Shunji, Yoshinaga Aki, Uchio Eiichi, Tawara Akihiko, Hayashi Kenshi, Tahira Tomoko
Publication date 2011/06
Summary PURPOSE: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.DESIGN: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.
DOI 10.1016/j.ajo.2010.11.026
PMID 21334594