Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío/CSIC/ Universidad de Sevilla, Sevilla, Spain.
Hum Mutat. 2010 Nov;31(11):E1772-800. doi: 10.1002/humu.21334.
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 space maker (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.
色素性视网膜炎（RP）是一组遗传性视网膜营养不良，其最终特征是感光细胞的丧失。我们最近发现了一个新的基因（EYS），该基因编码果蝇空间制造者（spam）的同源物，是常染色体隐性遗传 RP 的常见突变基因。在本研究中，我们报告了 EYS 中 73 个序列变异的鉴定，其中 28 个是新的。其中，42.9%（12/28）极有可能是致病性的，17.9%（5/28）可能是致病性的，而 39.3%（11/28）是 SNPs。此外，我们还检测到了以前在其他人群中报道的 3 种致病性变化。我们还展示了不同物种中 EYS 同源物的特征，并对 EYS 结构域进行了详细分析，确定了一个有趣的新特征：一个假定的卷曲螺旋结构域。arRP 患者的大多数突变都发生在 EYS 的结构域内。在我们的患者群体中，观察到的不同 EYS 突变的最低流行率为 15.9%（15/94），这证实了 EYS 在西班牙人群中 arRP 发病机制中的主要作用。除了在白种人群中检测到三个复发性突变外，本研究还强化了 EYS 是 arRP 中第一个普遍存在的基因的假设。
