Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry

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dc.contributor.authorKarapinar, Deniz Yilmaz
dc.contributor.authorPatiroglu, Turkan
dc.contributor.authorMetin, Ayse
dc.contributor.authorCaliskan, Umran
dc.contributor.authorCelkan, Tiraje
dc.contributor.authorYilmaz, Baris
dc.contributor.authorKarakas, Zeynep
dc.date.accessioned2024-02-23T13:03:29Z
dc.date.available2024-02-23T13:03:29Z
dc.date.issued2019
dc.departmentNEÜen_US
dc.description.abstractBackground Severe congenital neutropenia is a rare disease, and autosomal dominantly inherited ELANE mutation is the most frequently observed genetic defect in the registries from North America and Western Europe. However, in eastern countries where consanguineous marriages are common, autosomal recessive forms might be more frequent. Method Two hundred and sixteen patients with severe congenital neutropenia from 28 different pediatric centers in Turkey were registered. Results The most frequently observed mutation was HAX1 mutation (n = 78, 36.1%). A heterozygous ELANE mutation was detected in 29 patients (13.4%) in our cohort. Biallelic mutations of G6PC3 (n = 9, 4.3%), CSF3R (n = 6, 2.9%), and JAGN1 (n = 2, 1%) were also observed. Granulocyte colony-stimulating factor treatment was given to 174 patients (80.6%). Two patients died with infectious complications, and five patients developed myelodysplastic syndrome/acute myeloblastic leukemia. The mean (+/- mean standard error) follow-up period was 129.7 +/- 76.3 months, and overall survival was 96.8% (CI, 94.4-99.1%) at the age of 15 years. In Turkey, severe congenital neutropenia mostly resulted from the p W44X mutation in the HAX1 gene. Conclusion In Turkey, mutation analysis should be started with HAX1, and if this is negative, ELANE and G6PC3 should be checked. Because of the very high percentage of consanguineous marriage, rare mutations should be tested in patients with a negative mutation screen.en_US
dc.description.sponsorshipScientific and Technological Research Council of Turkey (TUBITAK); Turkish Pediatric Hematology Associationen_US
dc.description.sponsorshipThis study was supported by Scientific and Technological Research Council of Turkey (TUBITAK) and the Turkish Pediatric Hematology Association.en_US
dc.identifier.doi10.1002/pbc.27923
dc.identifier.issn1545-5009
dc.identifier.issn1545-5017
dc.identifier.issue10en_US
dc.identifier.pmid31321910en_US
dc.identifier.scopus2-s2.0-85069868218en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.1002/pbc.27923
dc.identifier.urihttps://hdl.handle.net/20.500.12452/10634
dc.identifier.volume66en_US
dc.identifier.wosWOS:000478208700001en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.ispartofPediatric Blood & Canceren_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCsf3ren_US
dc.subjectElaneen_US
dc.subjectHax1en_US
dc.subjectScn Registryen_US
dc.subjectSevere Congenital Neutropeniaen_US
dc.titleHomozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registryen_US
dc.typeArticleen_US

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