J Pediatr Genet 2019; 08(01): 033-037
DOI: 10.1055/s-0038-1670724
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Description of an ELANE Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings

Maria Gogou
1   Second Department of Pediatrics, School of Medicine, University General Hospital AHEPA, Aristotle University of Thessaloniki, Thessaloniki, Greece
,
Labrini Damianidou
1   Second Department of Pediatrics, School of Medicine, University General Hospital AHEPA, Aristotle University of Thessaloniki, Thessaloniki, Greece
,
Theodotis Papageorgiou
1   Second Department of Pediatrics, School of Medicine, University General Hospital AHEPA, Aristotle University of Thessaloniki, Thessaloniki, Greece
,
Athanasios Tragiannidis
1   Second Department of Pediatrics, School of Medicine, University General Hospital AHEPA, Aristotle University of Thessaloniki, Thessaloniki, Greece
,
Katerina Haidopoulou
1   Second Department of Pediatrics, School of Medicine, University General Hospital AHEPA, Aristotle University of Thessaloniki, Thessaloniki, Greece
,
Andreas Giannopoulos
1   Second Department of Pediatrics, School of Medicine, University General Hospital AHEPA, Aristotle University of Thessaloniki, Thessaloniki, Greece
,
Emmanuel Hatzipantelis
1   Second Department of Pediatrics, School of Medicine, University General Hospital AHEPA, Aristotle University of Thessaloniki, Thessaloniki, Greece
› Author Affiliations

Funding None.
Further Information

Publication History

17 May 2018

11 August 2018

Publication Date:
15 September 2018 (online)

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Abstract

We describe the case of a 5-year-old girl with severe congenital neutropenia presenting with recurrent skin and respiratory infections. Sequence analysis of ELANE and HAX1 genes identified a mutation in heterozygous state in exon 2 of the ELANE gene: c.157C > G (p.His53Asp), not previously described in the literature at the exon coding level. Given the autosomal dominant inheritance and the location of the mutation within a “hotspot,” this mutation was considered as clinically relevant. ELANE should be screened in patients with congenital neutropenia of no obvious etiology. A detailed medical history and clinical evaluation can prevent unnecessary investigations allowing for a targeted diagnostic strategy.