对 44 名患有家族性渗出性玻璃体视网膜病变或 Norrie 病的非相关患者进行 NDP 突变筛查。
Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease.
机构信息
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
出版信息
Curr Eye Res. 2012 Aug;37(8):726-9. doi: 10.3109/02713683.2012.675615. Epub 2012 May 7.
PURPOSE
To screen mutations in the norrin (NDP) gene in 44 unrelated Chinese patients with familial exudative vitreoretinopathy (FEVR, 38 cases) or Norrie disease (6 cases) and to describe the associated phenotypes.
METHODS
Of the 44 patients, mutation in FZD4, LRP5, and TSPAN12 was excluded in 38 patients with FEVR in previous study. Sanger sequencing was used to analyze the 2 coding exons and their adjacent regions of NDP in the 44 patients. Clinical data were presented for patients with mutation.
RESULTS
NDP variants in 5 of the 6 patients with Norrie disease were identified, including a novel missense mutation (c.164G>A, p.Cys55Phe) in one patient, two known missense mutations (c.122G>A, p.Arg41Lys; c.220C>T, p.Arg74Cys) in two patients, and a gross deletion encompassing the two coding exons in two patients. Of the 5 patients, 3 had a family history and 2 were singleton cases. No mutation in NDP was detected in the 38 patients with FEVR.
CONCLUSIONS
NDP mutations are common cause of Norrie disease but might be rare cause for FEVR in Chinese.
目的
在 44 名无血缘关系的中国家族渗出性玻璃体视网膜病变（FEVR，38 例）或 Norrie 病（6 例）患者中筛选 Norrin（NDP）基因的突变，并描述相关表型。
方法
在之前的研究中，38 例 FEVR 患者已排除 FZD4、LRP5 和 TSPAN12 的突变。对 44 名患者的 NDP 的 2 个编码外显子及其相邻区域进行 Sanger 测序分析。为有突变的患者提供临床资料。
结果
在 6 例 Norrie 病患者中发现了 NDP 变异，包括 1 例患者的新错义突变（c.164G>A，p.Cys55Phe），2 例患者的 2 个已知错义突变（c.122G>A，p.Arg41Lys；c.220C>T，p.Arg74Cys），2 例患者的两个编码外显子缺失。这 5 例患者中，3 例有家族史，2 例为单例。38 例 FEVR 患者未发现 NDP 突变。
结论
NDP 突变是 Norrie 病的常见病因，但在中国可能是 FEVR 的罕见病因。
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