title: Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.
abstract: 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.
authors.affiliation: Childhood Cancer Research Unit, Department of Woman and Child Health, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Göran
authors.initials: G
authors.lastname: Carlsson
authors.forename: Göran
authors.initials: G
authors.lastname: Elinder
authors.forename: Helena
authors.initials: H
authors.lastname: Malmgren
authors.forename: Alicja
authors.initials: A
authors.lastname: Trebinska
authors.forename: Ewa
authors.initials: E
authors.lastname: Grzybowska
authors.forename: Niklas
authors.initials: N
authors.lastname: Dahl
authors.forename: Magnus
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: Bengt
authors.initials: B
authors.lastname: Fadeel
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D018389:Codon, Nonsense; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009420:Nervous System / Q000254:growth & development; D009503:Neutropenia / Q000151:congenital / Q000235:genetics*; D011506:Proteins / Q000235:genetics; D013548:Sweden
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D018389:Codon, Nonsense; C104759:HAX1 protein, human; D011506:Proteins