• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Ophthalmic genetics >Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos
【24h】

Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos

机译：MFRP和PRSS56中的新型突变与后部微蛋白有关

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

Background: Biallelic pathogenic variants in MFRP and PRSS56 genes can be responsible for nanophthalmos (NO) or posterior microphthalmos (PM). This study describes detailed clinical and molecular findings in a series of five patients affected by PM from four unrelated families. Materials and Methods: All patients underwent a complete ophthalmological and genetic evaluation. For proper and deep phenotyping a multimodal instrumental approach was used for all cases: B-scan ultrasound, spectral domain optical coherence tomography (SD-OCT), fundus retinal imaging and anterior segment data were obtained. Molecular analysis of PRSS56 and MFRP genes was performed with Next-Generation Sequencing (NGS) methodology and segregation analysis on parents and one affected sibling was performed with Sanger sequencing. Results: A very high hyperopia of +14.00D or more was the main refractive error and macular abnormalities were identified in all patients. Axial length ranged from 15.3 mm to 17.86 mm (mean 16.58 mm) and age at first presentation ranged from 6 to 36 months (mean 18 months). Anterior chamber depth was within normal values, according to age, while total axial length was severely reduced in all patients. All our patients met the diagnostic criteria for PM. Three patients, including a pair of siblings, carried compound heterozygous mutations in the PRSS56 gene; in the other two patients, one homozygous or two compound heterozygous mutations in the MFRP gene were detected. Conclusion: Our study describes four novel mutations in the PRSS56 gene and one in the MFRP gene in patients with non-syndromic posterior microphthalmos. Proper genotype-phenotype correlation and early diagnosis could lead to good functional results.
机译：背景：MFRP和PRSS56基因中的双层致病变体可负责纳米滴（NO）或后部微蛋白（PM）。本研究描述了由来自四个无关家庭影响的一系列五个患者的详细临床和分子结果。材料和方法：所有患者均接受了完整的眼科和遗传评价。对于适当和深度的表型，可以使用多模式仪器方法来实现所有情况：B扫描超声波，光谱域光学相干断层扫描（SD-OCT），基底视网膜成像和前段数据。用下一代测序（NGS）方法和父母的分离分析进行PRSS56和MFRP基因的分子分析，并用Sanger测序进行一次受影响的兄弟姐妹。结果：非常高的远视+ 14.00d或更高是主要屈光误差，在所有患者中确定了黄斑异常。轴向长度范围为15.3毫米至17.86毫米（平均16.58毫米），第一次介绍的年龄范围为6至36个月（平均18个月）。根据年龄，前室深度在正常值内，所有患者的总轴向长度严重降低。我们所有的患者都达到了PM的诊断标准。三名患者，包括一对兄弟姐妹，在PRSS56基因中携带化合物杂合酶;在另外两个患者中，检测到MFRP基因中的一个纯合或两种化合物杂合酶突变。结论：我们的研究描述了PRSS56基因中的四种新突变，并在非综合征后微蛋白患者中的MFRP基因中。适当的基因型 - 表型相关性和早期诊断可能导致良好的功能结果。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
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