4.7 Article

Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis

期刊

SCIENCE CHINA-LIFE SCIENCES
卷 61, 期 8, 页码 947-953

出版社

SCIENCE PRESS
DOI: 10.1007/s11427-017-9232-6

关键词

hereditary spherocytosis; mutation; ANK1; SPTB; SLC4A1; whole-exome sequencing

类别

资金

  1. National Key Research and Development Program of China [2016YFC0905100]
  2. CAMS Innovation Fund for Medical Sciences [2016-I2M-1-002]
  3. National Natural Science Foundation of China (NSFC) [81230015]
  4. Beijing Municipal Science and Technology Commission [Z151100003915078]
  5. Medical Science and Technology Research Projects of Henan Provincial Health Bureau [201601019]
  6. Scientific and Technological Projects of the Technology Bureau of Henan Provincial Technology [172102410010]

向作者/读者索取更多资源

Hereditary spherocytosis (HS), the most common cause of congenital hemolytic anemia, is caused by deficiency of the erythrocyte membrane proteins. Five causative genes (ANK1, SPTB, SPTA1, SLC4A1, and EPB42) have been identified. To date, molecular genetic studies have been performed in different populations, including the American, European, Brazilian, Japanese and Korean populations, whereas only a few studies have been described in the Chinese population. Here, by reanalysis of the exome data, we revealed causative mutations and established a definitive diagnosis of HS in all 38 Chinese families. We found 34 novel mutations and four reported mutations in three known HS-causing genes-17 in ANK1, 17 in SPTB and four in SLC4A1, suggesting that ANK1 and SPTB are the major genes in Chinese patients with HS. All of the ANK1 or SPTB mutations, scattered throughout the entire genes, are non-recurrent; and most of them are null mutations, which might cause HS via a haploinsufficiency mechanism. De novo mutations in ANK1 or SPTB often occur with an unexpected high frequency (87.5% and 64.2%, respectively). Our study updates our knowledge about the genetic profile of HS in Chinese and shows that family-based, especially parent-offspring trio, sequencing analysis can help to increase the diagnostic power and improve diagnostic efficiency.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.7
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据