首页> 外文期刊>Genetic testing and molecular biomarkers >Mutations in MYH9 Exons 1, 16, 26, and 30 Are Infrequently Found in Japanese Patients with Nonsyndromic Deafness
【24h】

Mutations in MYH9 Exons 1, 16, 26, and 30 Are Infrequently Found in Japanese Patients with Nonsyndromic Deafness

机译:MYH9外显子的突变,16日,26日和30在日本患者很少发现Nonsyndromic学校

获取原文
获取原文并翻译 | 示例
           

摘要

Mutations in MYH9 result in the autosomal dominant giant platelet disorders with leukocyte inclusion bodies with varying degrees of Alport manifestations, including nephritis, deafness, and cataracts. A specific MYH9 mutation in exon 16, R705H, causes nonsyndromic deafness DFNA17. We searched for mutations in MYH9 exons 1, 16, 26, and 30 in a total of 157 Japanese patients with nonsyndromic deafness without known cause of hearing loss, but no mutations were found. We conclude that mutations in MYH9 are infrequently found in patients with nonsyndromic deafness and suggest that MYH9 mutations infrequently cause isolated sensorineural hearing loss. Thus, MYH9 may not currently be a good candidate gene for efficient screening of genetic causes in nonsyndromic deafness.
机译:在MYH9基因突变导致常染色体显性遗传巨型血小板疾病与白细胞包容与不同程度的Alport尸体表现,包括肾炎,耳聋,和白内障。16、R705H、causes nonsyndromic deafness DFNA17。我们寻找突变MYH9外显子1,16日26日,共有157名日本患者和30没有已知的原因与nonsyndromic耳聋听力损失,但没有发现突变。得出结论:突变MYH9很少nonsyndromic耳聋患者中发现的建议很少MYH9基因突变引起孤立感音神经性听力损失。目前可能不会是一个好的候选基因吗高效筛选遗传导致的nonsyndromic耳聋。

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