Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities
2009 (English)In: Pediatric Blood & Cancer, ISSN 1545-5009, E-ISSN 1545-5017, Vol. 53, no 6, 1143-1146 p.Article in journal (Refereed) Published
Kostmann disease or severe congenital neutropenia (SCN) is an autosomal recessive disorder of neutrophil production. Homozygous HAX1 mutations were recently identified in SCN patients belonging to the original family in northern Sweden described by Kostmann. Moreover, recent studies have suggested an association between neurological dysfunction and HAX1 deficiency. Here we describe a patient with a compound heterozygous HAX1 mutation consisting of a nonsense mutation (c.568C > T, p.Glu190X) and a frame-shift mutation (c.91delG, p.Glu31LysfsX54) resulting in a premature stop codon. The patient has a history of neutropenia and a propensity for infections, but has shown no signs of neurodevelopmental abnormalities.
Place, publisher, year, edition, pages
2009. Vol. 53, no 6, 1143-1146 p.
compound heterozygous mutation, G-CSF, HAX1, severe congenital neutropenia
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-122416DOI: 10.1002/pbc.22131ISI: 000270440900045PubMedID: 19499579OAI: oai:DiVA.org:uu-122416DiVA: diva2:310055