Identification of a novel ANK1 gene mutation in a newborn with hereditary spherocytosis / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To determine the disease-causing mutation in a newborn with hereditary spherocytosis.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>The hereditary spherocytosis in the neonate was probably due to the g.834_833insC mutation of the ANK1 gene.</p>