• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Ophthalmic genetics >TUBGCP4- associated microcephaly and chorioretinopathy
【24h】

TUBGCP4- associated microcephaly and chorioretinopathy

机译：Tubgcp4-相关的微症和胆体素病

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

BackgroundMicrocephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly and chorioretinopathy. In a recessive inheritance pattern, there are three types: MCCRP1; MCCRP2 and MCCRP3. MCCRP3 results from pathogenic variants in thetubulin-gamma complex-associated protein 4(TUBGCP4)gene. Materials and MethodsThis is a case report of a patient with a molecular diagnosis defined by mutations in theTUBGCP4gene. Segregation analyses were carried out. ResultsThe molecular investigation found two heterozygous variants c.1380 G > A (p.Trp460*) a novel nonsense variant, and c.1746 G > T (p Leu582=) a synonymous variant inTUBGCP4. The clinical phenotype was characterized by microcephaly, microphthalmia, chorioretinopathy, a punched-out retinal appearance, dysmorphic facial features, decreased visual acuity, and learning difficulties. The clinical features were similar to those described previously in children with MCCRP3. The proband also had additional features including centripetal obesity, stretch marks, acanthosis nigricans, scoliosis, and hypercholesterolemia. These other features could be part of a ciliopathy syndrome. ConclusionsMCCRP2 caused by pathogenic variants inPLK4is well established as a ciliopathy disease. The role ofTUBGCP4is not well established in the cilium physiology. MCCRP3 may be part of the ciliopathy spectrum.
机译：BackgroundMicrocephaly和胆体术（McCRP）是一种罕见的神经眼科疾病，导致微骨骼和胆体素病变。在隐性继承模式中，有三种类型：MCCRP1; mccrp2和mccrp3。 McCRP3由Thetubulin-Gamma复杂相关蛋白4（TubGCP4）基因的致病变体产生。材料和方法是一种患者的患者，其患者通过ThetubGCP4庚酮中的突变定义。进行分析分析。结果是分子调查发现两种杂合变体C.1380 G> A（P.TRP460 *）一种新型非阵容变体，C.1746 G> T（P LEU582 =）同义变型INTUBGCP4。临床表型以微骨畸形，微球蛋白，胆小血管病变，穿孔视网膜外观，缺血性面部特征，减少视力降低，以及学习困难。临床特征与MCCRP3的儿童中描述的那些类似。该证书还具有额外的特征，包括含有离心肥胖，妊娠纹，髋关节病核，脊柱侧凸和高胆固醇血症。这些其他特征可能是Ciliopathy综合征的一部分。结论致病性变异引起的肝癌均匀成立，良好地作为一种皮利病疾病。在纤毛生理学中核武器的作用。 McCRP3可以是CileoPathy谱的一部分。

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