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

Duong Anh Linh; Nguyen Thi Van Anh; Nguyen Van Tung; Nguyen Huy Hoang; Ngo Diem Ngoc; Nguyen Thi Phuong Mai; Ngo Manh Tien; Nguyen Thi Kim Lien

doi:10.15625/2615-9023/17080

Author affiliations

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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