...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Ophthalmology >VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.
【24h】

VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.

机译：VSX1（RINX）突变，具有颅面畸形，蝶鞍空，角膜内皮细胞变化以及视网膜和听觉双极细胞异常。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

PURPOSE: To present a previously unreported African American family with 1 variation and 1 mutation of the homeobox transcription factor gene, VSX1 (RINX), and to describe the clinical features of family members. DESIGN: Family genotype and clinical studies. PARTICIPANTS: A 3-generation family with 7 available family members. METHODS: Blood was drawn from all available family members, and the VSX1 (RINX) gene was sequenced. Craniofacial abnormalities, central nervous system defects, anterior segment features, and retinal and auditory function were assessed. MAIN OUTCOME MEASURES: Main outcome measures included identification and molecular characterization of 1 variation and 1 mutation in VSX1 (RINX) of 4 affected family members (3 adults and 1 child). Craniofacial features were documented. Central neuroimaging was performed. Ophthalmologic findings were described. Retinal and auditory functions were quantified. RESULTS: Two changes in VSX1 (RINX) were identified: a variation (R131S) not in a critical region and in few controls, and a mutation (A256S) in the critical CVC-domain and not in any controls. Both were present on 1 chromosome at 20p11.2 and were segregated with the 4 affected patients. Clinical features demonstrated extremely variable expressivity. Craniofacial features, including wide interpupillary distance and unusual pinnae, occurred in the 4 affected patients. Neuroimaging demonstrated that the propositus had an empty sella turcica, a posterior fossa cyst, an anterior encephalocele, hypertelorism, and severe hydrocephalus; her mother had a partially empty sella turcica, a small pituitary gland without any subarachnoid extension of fluid, and hypertelorism; and her older sister had hypertelorism but otherwise normal neuroimaging results. Anterior segment anomalies of the corneal endothelium were a constant finding in all affected family members. Electrophysiologic examination provided evidence for abnormal cone bipolar cells (visual evoked response and electroretinogram) in the adult affectedpatients and for abnormal auditory bipolar cells (audiogram and audio-evoked brainstem response) in the propositus. CONCLUSIONS: The new mutation in the VSX1 (RINX) gene described in this report results in abnormal craniofacial features, absence of the roof of the sella turcica, and anomalous development of the corneal endothelium. This mutation also impacts on the maintenance of cone bipolar cells of the visual system and of bipolar cells of the auditory system.
机译：目的：介绍一个以前未报道过的，具有同源变体转录因子基因VSX1（RINX）的1个变异和1个突变的非洲裔美国家庭，并描述其家庭成员的临床特征。设计：家庭基因型和​​临床研究。参加者：3代家庭，有7位可用家庭成员。方法：从所有可用的家庭成员中抽血，并对VSX1（RINX）基因进行测序。评估了颅面异常，中枢神经系统缺损，前节特征以及视网膜和听觉功能。主要观察指标：主要观察指标包括4名受影响家庭成员（3名成人和1名儿童）的VSX1（RINX）中1个变异和1个突变的鉴定和分子表征。记录了颅面特征。进行了中枢神经成像。描述了眼科检查结果。视网膜和听觉功能被量化。结果：确定了VSX1（RINX）的两个变化：不在关键区域和少数对照中的变异（R131S），以及在关键CVC结构域而不在任何对照中的变异（A256S）。两者都出现在20p11.2的1条染色体上，并与4名受影响的患者隔离。临床特征显示出极高的表达能力。 4例患者出现了颅面特征，包括瞳孔间距离宽和异常的棘突。神经影像学检查表明，该性腺有一个空的蝶鞍，后颅窝囊肿，前脑膨出，体力亢进和严重的脑积水。她的母亲有一个半空的蝶鞍，一个小的垂体腺，没有蛛网膜下腔的积液和肥大的肌肉。她的姐姐患有玻璃体肥大，但神经影像检查结果正常。在所有受影响的家庭成员中，经常发现角膜内皮的前节异常。电生理检查为成年患病患者的锥体双极细胞异常（视觉诱发反应和视网膜电图）提供了证据，而在睾丸中为听觉双极细胞异常（听力图和诱发的脑干反应）提供了证据。结论：本报告中描述的VSX1（RINX）基因的新突变导致颅面功能异常，蝶鞍顶部不存在以及角膜内皮发育异常。这种突变还影响视觉系统的视锥细胞和听觉系统的双极细胞的维持。

著录项

相似文献

  • 外文文献
  • 中文文献
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号