title: [Identification of a novel ANK1 gene mutation in a newborn with hereditary spherocytosis].
abstract: 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.
  
  
  CONCLUSIONS
  The hereditary spherocytosis in the neonate was probably due to the g.834_833insC mutation of the ANK1 gene.
authors.affiliation: Neonatal Center, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China. jiangmin7496@sina.com.
authors.forename: Min
authors.initials: M
authors.lastname: Jiang
authors.forename: Jie
authors.initials: J
authors.lastname: Lu
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhong
authors.forename: Yajuan
authors.initials: Y
authors.lastname: Wang
authors.forename: Caiyun
authors.initials: C
authors.lastname: Yang
mesh_terms: D000595:Amino Acid Sequence; D017487:Ankyrins / Q000235:genetics*; D001483:Base Sequence; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D013103:Spherocytosis, Hereditary / Q000175:diagnosis / Q000235:genetics*
chemical_list: C110202:ANK1 protein, human; D017487:Ankyrins