De novo mutations of \(\textit{ ELANE}\) gene in three Vietnamese patients with severe congenital neutropenia

Authors

  • Duong Anh Linh Institute of Genome Research, VAST, Vietnam
  • Nguyen Thi Van Anh Immunology and Rheumatology and Rheumatology Department, Vietnam National Hospital Pediatrics, Vietnam
  • Nguyen Van Tung Institute of Genome Research, VAST, Vietnam
  • Nguyen Huy Hoang Institute of Genome Research, VAST, Vietnam
  • Ngo Diem Ngoc Human Genetics Department, Vietnam National Hospital of Pediatrics, Vietnam
  • Nguyen Thi Phuong Mai Human Genetics Department, Vietnam National Hospital of Pediatrics, Vietnam
  • Ngo Manh Tien Human Genetics Department, Vietnam National Hospital of Pediatrics, Vietnam
  • Nguyen Thi Kim Lien Institute of Genome Research, VAST, Vietnam

DOI:

https://doi.org/10.15625/2615-9023/17080

Keywords:

De novo, ELANE, severe congenital neutropenia, Vietnamese, whole-exome sequencing

Abstract

Severe congenital neutropenia (SCN) is a congenital condition in which granulocytes mature abnormally owing to a variety of genetic defects, resulting in immunodeficiency. Among the several genetic variations related to SCN, heterozygous mutations in the ELANE gene encoding neutrophil elastase account for approximately 60% of the genetic causes. Here, we present three patients from different Vietnamese families who were susceptible to infectious diseases such as lung abscesses, sepsis, cellulitis, and septicemia. Moreover, their hematological and immunological parameters were below the reference range. Whole exome sequencing (WES) analysis was performed in all cases harboring three previously described disease-causing mutations, including p.Arg103Pro, p.Trp156Arg, and p.Arg81Pro in the ELANE gene (NM_001972.4). These mutations were confirmed by the Sanger sequencing method in the patients, helping to identify de novo mutations in all cases. Our data increase more evidence for the function of ELANE in SCN, as well as raise awareness of this rare disease in the context of frequent infections in Vietnam.

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References

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Published

28-09-2022

How to Cite

Anh Linh, D., Van Anh, N. T., Van Tung, N., Huy Hoang, N., Diem Ngoc, N., Phuong Mai, N. T., Manh Tien, N., & Thi Kim Lien, N. (2022). De novo mutations of \(\textit{ ELANE}\) gene in three Vietnamese patients with severe congenital neutropenia. Academia Journal of Biology, 44(3), 77–85. https://doi.org/10.15625/2615-9023/17080

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