[Identification of a novel ANK1 gene mutation in a newborn with hereditary spherocytosis]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Feb;33(1):44-7. doi: 10.3760/cma.j.issn.1003-9406.2016.01.011.
[Article in Chinese]

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.

Conclusion: The hereditary spherocytosis in the neonate was probably due to the g.834_833insC mutation of the ANK1 gene.

Publication types

  • Case Reports
  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Ankyrins / genetics*
  • Base Sequence
  • Female
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases / diagnosis
  • Infant, Newborn, Diseases / genetics*
  • Molecular Sequence Data
  • Mutation*
  • Spherocytosis, Hereditary / diagnosis
  • Spherocytosis, Hereditary / genetics*

Substances

  • ANK1 protein, human
  • Ankyrins