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.
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.