• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>American journal of medical genetics, Part A >Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation
【24h】

Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation

机译：用新型EFNB1突变患有颅孢菌综合征的患者的颅内中线缺陷

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

We report a female patient with craniofrontonasal syndrome (CFNS) who in addition showed other cranial and extracranial midline defects including partial corpus callosum agenesis, ocular melanocytosis, pigmentary glaucoma, duplex collecting system, uterus didelphys, and septate vagina. She was found to have a novel pathogenic variant in exon 5 of EFNB1, c.646G>T (p.Glu216*) predicted to cause premature protein truncation. From our review, we found at least 39 published CFNS patients with extracranial midline defects, comprising congenital diaphragmatic hernia, congenital heart defects, umbilical hernia, hypospadias, and less frequently, sacrococcygeal teratomas, and internal genital anomalies in females. These findings support that the EFNB1 mutations have systemic consequences disrupting morphogenetic events at the extracranial midline. Though these are not rigorously included as midline defects, we found at least 10 CFNS patients with congenital anomalies of the kidney and urinary tract, all females. Additionally, uterus didelphys and ocular melanocytosis observed in our patient are proposed also as a previously unreported EFNB1-related midline defects. In addition, this case may be useful for considering the intentional search for genitourinary anomalies in future patients with CFNS, which will be helpful to define their frequency in this entity.
机译：我们报告了一个患有颅外癌症综合征（CFNS）的女性患者，他们此外还表现出其他颅骨和颅外中线缺陷，包括部分语料库胼um患者，眼黑肾病，颜料胶质瘤，双链体系，子宫嗜患者和叶粪虫阴道。发现她在EFNB1的外显子5中具有新的致病变体，C.646G> T（P.Glu216 *）预测导致早熟蛋白质截断。从我们的评论中，我们发现至少有39名具有颅内中线缺陷的患者，包括先天性膈疝，先天性心脏缺陷，脐疝，患有女性中的骶骨心肌畸胎，以及内部生殖器异常。这些发现支持EFNB1突变具有破坏颅外中线的形态发生事件的系统性后果。虽然这些并不严格包含在中线缺陷中，但我们发现至少10名患有肾脏和泌尿道的先天性异常，所有女性。此外，在我们患者中观察到的子宫嗜患儿和眼镜细胞症也被提出为先前未报告的EFNB1相关的中线缺陷。此外，这种情况可能很有用，以考虑在未来的CFN患者中进行有意的搜索泌尿源异常，这将有助于在本实体中定义其频率。

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