[Identification of a novel ANK1 gene mutation in a newborn with hereditary spherocytosis]
1Neonatal Center, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China. jiangmin7496@sina.com.
Objective:
To determine the disease-causing mutation in a newborn with hereditary spherocytosis.
Methods:
Genomic DNA was extracted from peripheral blood samples of the patient and her parents. Next-generation sequencing was used to analyze the related genes. Suspected pathogenic mutation was verified with polymerase chain reaction and Sanger sequencing.
Results:
An insertional mutation g.834_833insC was identified in the coding region of ankyrin-1 (ANK1) gene, which has caused a frame shift, resulting premature termination of protein translation.
Conclusion:
The hereditary spherocytosis in the neonate was probably due to the g.834_833insC mutation of the ANK1 gene.
