...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of genetics >A novel deletion mutation of the SOX2 gene in a child of Chinese origin with congenital bilateral anophthalmia and sensorineural hearing loss
【24h】

A novel deletion mutation of the SOX2 gene in a child of Chinese origin with congenital bilateral anophthalmia and sensorineural hearing loss

机译：具有先天性双侧咽栓和感觉神经听力损失的中草体儿童SOx2基因的新型缺失突变

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

Congenital anophthalmia is a rare eye anomaly which lacks a recognizable eye in the orbit. It can be isolated (nonsyndromic) or be observed as a sign of other diseases (syndromic). A Chinese infant was born with bilateral anophthalmia and palpebral fissure closures. Ocular and systemic examinations were performed, and genomic DNA was prepared from peripheral leukocytes. The coding exons and the adjacent intrinsic sequence of SOX2 were analysed by Sanger sequencing. A c.70_89del (p. Asn24ArgfsX65; rs398123693) mutation in SOX2 was identified in the Chinese infant with bilateral clinical anophthalmia and sensorineural hearing loss. This mutation was not detected in the unaffected parents and 150 unaffected control individuals. Mutation in SOX2 is associated with bilateral clinical anophthalmia and probably with other anomalies in the Chinese infant. Until now hearing loss has not been reported in individuals with SOX2 mutation. The results remind us that clinical anophthalmia may be accompanied by sensorineural hearing loss and may be associated with SOX2 mutation, and it will contribute to improving diagnosis and patient care. Given that children with anophthalmia already have reduced sight, it seems worthwhile to make a point of careful vigilance on hearing for all such patients.
机译：先天性无眼症是一种罕见的眼部异常，在眼眶内缺乏可识别的眼睛。它可以是孤立的（非综合征性的），也可以作为其他疾病的标志（综合征性的）。一名中国婴儿出生时患有双侧眼球缺失和眼睑裂闭合。进行眼部和全身检查，并从外周白细胞制备基因组DNA。通过Sanger测序分析SOX2的编码外显子和相邻的固有序列。在患有双侧临床无眼症和感音神经性耳聋的中国婴儿中，发现SOX2中存在c.7089del（p.Asn24ArgfsX65；rs398123693）突变。在未受影响的父母和150名未受影响的对照个体中未检测到这种突变。SOX2突变与双侧临床无眼球症有关，可能与中国婴儿的其他异常有关。到目前为止，还没有SOX2突变个体的听力损失报告。这些结果提醒我们，临床无眼症可能伴有感音神经性听力损失，并可能与SOX2突变有关，这将有助于改善诊断和患者护理。鉴于患有无眼球症的儿童已经视力下降，对所有这类患者的听力保持警惕似乎是值得的。

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