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Cao M, Huang Z, Zhou H, et al. Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene. J Clin Lab Anal. 2021;35(6):e23781doi: 10.1002/jcla.23781.
Cao, M., Huang, Z., Zhou, H., Lin, J., & Zhang, D. (2021). Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene. Journal of clinical laboratory analysis, 35(6), e23781. https://doi.org/10.1002/jcla.23781
Cao, Manxiong, et al. "Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene." Journal of clinical laboratory analysis vol. 35,6 (2021): e23781. doi: https://doi.org/10.1002/jcla.23781
Cao M, Huang Z, Zhou H, Lin J, Zhang D. Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene. J Clin Lab Anal. 2021 Jun;35(6):e23781. doi: 10.1002/jcla.23781. Epub 2021 May 04. PMID: 33942936; PMCID: PMC8183902.
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J Clin Lab Anal. 2021 Jun;35(6):e23781. doi: 10.1002/jcla.23781. Epub 2021 May 04.

Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.

Journal of clinical laboratory analysis

Manxiong Cao, Zhanqin Huang, Huanbing Zhou, Jinghua Lin, Dongqing Zhang

Affiliations

  1. Department of Hematology, the First Affiliated Hospital of Shantou University Medical College, Shantou, P.R. China.
  2. Department of Pharmacology, Shantou University Medical College, Shantou, P.R. China.
  3. Department of Laboratory Medicine, the First Affiliated Hospital of Shantou University Medical College, Shantou, P.R. China.

PMID: 33942936 PMCID: PMC8183902 DOI: 10.1002/jcla.23781

Abstract

BACKGROUND: Hereditary elliptocytosis (HE) is a heterogeneous red blood cell membrane disorder characterized by the presence of elliptocytes on a peripheral blood smear. Clinical manifestations of HE vary widely from asymptomatic carriers to patients with severe transfusion-dependent anemia. Most patients are asymptomatic or have mild anemia, which hinders diagnosis. The proband in this case had mild anemia and jaundice over a period of 4 years, the etiology of which was unclear. Hence, he was admitted to our hospital for further diagnosis.

METHODS: Peripheral blood smears and routine blood tests were performed and biochemical parameters of the proband, and his family members were determined. To confirm the diagnosis, gene mutations were screened in the proband using next-generation sequencing (NGS) and verified by Sanger sequencing in other family members.

RESULTS: A novel mutation (c.1294delA, p.Ser432 fs) in exon 15 of the EPB41 gene was detected in the proband and his family members. This mutation results in a frameshift and a premature stop codon at position 455, encoding a truncated protein. The variant was likely pathogenic according to the criteria of the American College of Medical Genetics and Genomics. SWISS-MODEL protein structure prediction indicated partial loss of the spectrin and actin binding and C-terminal domains.

CONCLUSION: A heterozygous mutation 1294delA in exon 15 of the EPB41 gene was identified using NGS and Sanger sequencing in members of a Chinese family. This identification expands the spectrum of EPB41 mutations and contributes to the genetic diagnosis of families with HE.

© 2021 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.

Keywords: erythrocyte protein band 4.1 gene; hemolytic anemia; hereditary elliptocytosis; mutation

References

  1. Blood Rev. 2013 Jul;27(4):167-78 - PubMed
  2. Blood Res. 2013 Sep;48(3):211-6 - PubMed
  3. Cold Spring Harb Mol Case Stud. 2016 Jul;2(4):a000885 - PubMed
  4. Blood Cells Mol Dis. 2011 Mar 15;46(3):195-200 - PubMed
  5. Blood. 2010 Jun 10;115(23):4843-52 - PubMed
  6. Blood Cells Mol Dis. 2011 Oct 15;47(3):158-65 - PubMed
  7. Semin Hematol. 2004 Apr;41(2):142-64 - PubMed
  8. Br J Haematol. 2019 Sep;186(5):e159-e162 - PubMed
  9. J Biol Chem. 1999 Jan 22;274(4):2077-84 - PubMed
  10. Mol Med Rep. 2018 Apr;17(4):5903-5911 - PubMed
  11. Br J Haematol. 1996 Oct;95(1):57-66 - PubMed
  12. Curr Opin Hematol. 2007 May;14(3):198-202 - PubMed
  13. Haematologica. 2016 Nov;101(11):1284-1294 - PubMed
  14. Blood Cells Mol Dis. 2016 Oct;61:4-9 - PubMed
  15. Br J Haematol. 2008 May;141(3):367-75 - PubMed
  16. Semin Hematol. 1993 Jan;30(1):21-33 - PubMed
  17. Rinsho Byori. 1997 Apr;45(4):367-76 - PubMed
  18. Blood. 2008 Jun 15;111(12):5712-20 - PubMed

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