Analysis of ANK1 gene mutation in a family with hereditary spherocytosis type Ⅰ / 中华医学遗传学杂志

ABSTRACT

Objective@#To detect the disease-causing mutation in a family with hereditary spherocytosis type Ⅰ.@*Methods@#Genomic DNA was extracted from peripheral blood samples of the proband and his relatives. Next-generation sequencing was used to detect the mutations of relevant genes. Suspected pathogenic mutation was verified by Sanger sequencing.@*Results@#The proband was found to harbor a novel frameshifting mutation in the coding region of ANK1 gene, which has resulted in abnormal structure or function of the protein. The mutation was confirmed by Sanger sequencing, with both his father and brother found to have carried the same mutation.@*Conclusion@#The c. 247delG mutation of proband hereditary spherocytosis typeⅠin this family due to mutation of the ANK1gene.