Description of an Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings.
Title | Description of an Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings. |
Publication Type | Journal Article |
Year of Publication | 2019 |
Authors | Gogou, M., Damianidou L., Papageorgiou T., Tragiannidis A., Haidopoulou K., Giannopoulos A., & Hatzipantelis E. |
Journal | J Pediatr Genet |
Volume | 8 |
Issue | 1 |
Pagination | 33-37 |
Date Published | 2019 Mar |
ISSN | 2146-4596 |
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 and HAX1 genes identified a mutation in heterozygous state in exon 2 of the 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. 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. |
DOI | 10.1055/s-0038-1670724 |
Alternate Journal | J Pediatr Genet |
PubMed ID | 30775052 |
PubMed Central ID | PMC6375722 |