Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities

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.

Elinder, GöranKarolinska Institutet (author)
Malmgren, HelenaKarolinska Institutet (author)
Trebinska, Alicja (author)
Grzybowska, Ewa (author)
Dahl, NiklasUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)nikldahl (author)
Nordenskjöld, MagnusKarolinska Institutet (author)
Fadeel, BengtKarolinska Institutet (author)
Karolinska InstitutetInstitutionen för genetik och patologi (creator_code:org_t)

By the author/editor: Carlsson, Göran; Elinder, Göran; Malmgren, Helena; Trebinska, Alicj ...; Grzybowska, Ewa; Dahl, Niklas; show more...; Nordenskjöld, Ma ...; Fadeel, Bengt; show less...

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