Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
复制标题
DOI：
10.1002/humu.21334
复制
发表时间：
2010-11
期刊：
影响因子：
3.9
通讯作者：
Antinolo, Guillermo
中科院分区：
文献类型：
--
作者：
Barragan, Isabel;Borrego, Salud;Ignacio Pieras, Juan;Gonzalez-del Pozo, Maria;Santoyo, Javier;Ayuso, Carmen;Baiget, Montserrat;Millan, Jose M.;Mena, Marcela;El-Aziz, Mai M. Abd;Audo, Isabelle;Zeitz, Christina;Littink, Karin W.;Dopazo, Joaquin;Bhattacharya, Shomi S.;Antinolo, Guillermo
色素性视网膜炎（RP）是一种异质性的遗传性视网膜营养不良症，最终以光感受器细胞的丧失为特征。我们最近发现了一个新的基因（EYS）编码果蝇空间制造者（spam）的同源基因，作为常染色体隐性RP的常见突变基因。在本研究中，我们报道了73个EYS序列变异的鉴定，其中28个是新的。其中，42.9%（12/28）非常可能致病，17.9%（5/28）可能致病，而39.3%（11/28）是snp。此外，我们还发现了以前在其他人群中报告的3种致病性变化。我们还介绍了不同物种中EYS同源物的特征，并详细分析了EYS结构域，发现了一个有趣的新特征：一个假定的线圈结构域。大多数arRP患者的突变发生在EYS结构域内。在我们的患者组中，观察到的不同EYS突变的最低患病率为15.9%(15/94)，证实了EYS在西班牙人群中arRP发病机制中的主要参与。随着在高加索人群中检测到三种复发性突变，我们关于EYS是arRP的第一流行基因的假设在本研究中得到了加强。©2010 Wiley-Liss, Inc
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene (EYS) encoding an ortholog of Drosophila spacemaker (spam) as a commonly mutated gene in autosomal recessive RP. In the present study, we report the identification of 73 sequence variations in EYS, of which 28 are novel. Of these, 42.9% (12/28) are very likely pathogenic, 17.9% (5/28) are possibly pathogenic, whereas 39.3% (11/28) are SNPs. In addition, we have detected 3 pathogenic changes previously reported in other populations. We are also presenting the characterisation of EYS homologues in different species, and a detailed analysis of the EYS domains, with the identification of an interesting novel feature: a putative coiled-coil domain. Majority of the mutations in the arRP patients have been found within the domain structures of EYS. The minimum observed prevalence of distinct EYS mutations in our group of patients is of 15.9% (15/94), confirming a major involvement of EYS in the pathogenesis of arRP in the Spanish population. Along with the detection of three recurrent mutations in Caucasian population, our hypothesis of EYS being the first prevalent gene in arRP has been reinforced in the present study. © 2010 Wiley-Liss, Inc.
登录
查看更多内容
影响因子：
14.9
作者：
Ramensky, V;Bork, P;Sunyaev, S
通讯作者：
Sunyaev, S
DOI：
10.1073/pnas.94.23.12413
发表时间：
1997-11-11
影响因子：
11.1
作者：
SadouletPuccio, HM;Rajala, M;Kunkel, LM
通讯作者：
Kunkel, LM
影响因子：
9.8
作者：
Ruiz, A;Borrego, S;Antiñolo, G
通讯作者：
Antiñolo, G
影响因子：
3.9
作者：
Pomares, Esther;Marfany, Gemma;Gonzalez-Duarte, Roser
通讯作者：
Gonzalez-Duarte, Roser
影响因子：
9.8
作者：
Takahara, K;Schwarze, U;Greenspan, DS
通讯作者：
Greenspan, DS