Mutations in the TSPAN12 Gene in Japanese Patients with Familial Exudative Vitreoretinopathy
Mutations in the TSPAN12 Gene in Japanese Patients with Familial Exudative Vitreoretinopathy
复制标题
DOI：
10.1016/j.ajo.2010.11.026
复制
发表时间：
2011-06-01
影响因子：
4.2
通讯作者：
Tahira, Tomoko
中科院分区：
文献类型：
--
作者：
Kondo, Hiroyuki;Kusaka, Shunji;Tahira, Tomoko
目的：检测90例家族性渗出性玻璃体视网膜病变(FEVR)先证者及其家族成员的TSPAN12基因突变，并确定突变类型和频率。设计：实验室调查和临床病例分析。方法：对90例家族性渗出性玻璃体视网膜病变(FEVR)先证者及其部分家族成员进行TSPAN12基因编码外显子的直接测序。确定了TSPAN12突变个体特有的临床症状和体征。结果：发现3个家系携带2个TSPAN12基因突变。其中一个突变是新的错义突变L245P，另一个是已报道的无义突变L140X，在2个家系中。TSPAN12的突变占日本FEVR患者的3%，占FEVR家族的8%，这些患者没有任何已知的FEVR基因FZD4、LRP5和NDP突变。不同患者的临床症状和体征不同，但TSPAN12突变的视网膜表现与已知FEVR基因突变的视网膜发现没有区别。结论：突变的TSPAN12与日本约3%的FEVR患者有关。这些结果进一步证明，TSPAN12的突变是FEVR的原因，并且基因产物很可能在视网膜血管的发育中发挥作用。《眼科杂志》2011；151：1095-1100。(C)2011年由Elsevier Inc.保留所有权利。)
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. (Am J Ophthalmol 2011;151:1095-1100. (C) 2011 by Elsevier Inc. All rights reserved.)