科研之友
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摘要
Background: Hereditary spherocytosis (HS) is the highest incidence disease of hemolytic anemia and is characterized by the production of spherocytes red blood cells. To date, a number of mutations in 5 genes have been identified in patients with HS and the mutations in ANK1 gene account for 75% patients. Methods: Whole exome sequencing (WES) was performed in a Chinese HS patient with his parents to identify mutation genes that were responsible for the disease. Prioritized candidate genes were screened based on clinics, pedigree, and mutation characters, and were validated by Sanger sequencing. The crystal structures determined previously were down-loaded from PDB and further analyzed. Sequence conservation together with mutation characteristics of ANK1 were studied. Results: The proband suffered from severe HS that requiring blood transfusion. WES revealed a heterozygous c. 3398 (exon29) delA deletion in ANK1 gene in the proband. The 1 bp-deletion causes a frameshift mutation and is absent from the parents. Structure analyzation shows that the mutation found in this study is possible to induce the instability of ZU5B which in turn lead to HS. Conclusions: Our study detected a new de novo ankyrin gene mutation c. 3398 (exon29) delA that could lead to severe HS.
- 出版日期2017
- 单位湖南省人民医院
