Premium
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities
Author(s) -
Carlsson Göran,
Elinder Göran,
Malmgren Helena,
Trebinska Alicja,
Grzybowska Ewa,
Dahl Niklas,
Nordenskjöld Magnus,
Fadeel Bengt
Publication year - 2009
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22131
Subject(s) - congenital neutropenia , medicine , neutropenia , nonsense mutation , blood cancer , compound heterozygosity , mutation , nonsense , pediatrics , cancer , genetics , gene , missense mutation , chemotherapy , biology
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. Pediatr Blood Cancer 2009;53:1143–1146. © 2009 Wiley‐Liss, Inc.