Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin

Journal of Clinical Pathology
A Kumar ArunPoonkuzhali Balasubramanian

Abstract

Congenital and cyclical neutropenia are rare inherited diseases that result in recurrent life-threatening bacterial infections due to a deficiency of mature neutrophils. Cyclical neutropenia is usually caused by heterozygous ELANE mutations while congenital neutropenia is genetically heterogeneous with mutations in genes like ELANE, HAX-1, G6PC3 and GFI1. The presence of ELANE mutation aids in the establishment of diagnosis and rules out other secondary causes of neutropenia such as autoimmune cytopenia and evolving aplasia. Further, patients with ELANE mutations are also at a high risk of developing myelodysplasia or acute myeloid leukaemia. Hence it is important to screen for these mutations in patients presenting with neutropenia early in life. The study included 52 patients who were evaluated for inherited neutropenia. Genomic DNA was extracted from peripheral blood leucocytes and mutation analysis was done by bidirectional Sanger sequencing. Ten different missense, frameshift or splice site variants in ELANE gene were identified in 11 patients: c.125C>T (p.Pro42Leu), c.164G>A (p.Cys55Tyr), c.169G>A (p.Ala57Thr), c.179T>C (p.Ile60Thr), c.770C>T (p.Pro257Leu), c.367-8C>A, c.597+1G>A along with three novel mutations c.302T>A ...Continue Reading

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Citations

Nov 17, 2019·Journal of Clinical Pathology·Arun Kumar ArunachalamPoonkuzhali Balasubramanian
Nov 24, 2020·Journal of Clinical Immunology·Arun Kumar ArunachalamEunice Sindhuvi Edison
May 11, 2021·Frontiers in Immunology·Zuzanna RydzynskaJoanna Madzio

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