title: Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.
abstract: Autosomal recessive severe congenital neutropenia (SCN) or Kostmann syndrome is characterised by reduced neutrophil counts and subsequent recurrent bacterial infections. The disease was originally described in a large consanguineous pedigree from Northern Sweden. A genome-wide autozygosity scan was initiated on samples from four individuals in the original pedigree using high density single nucleotide polymorphism (SNP) genotyping arrays in order to map the disease locus. Thirty candidate regions were identified and the ascertainment of samples from two additional patients confirmed a single haplotype with significant association to the disorder (p<0.01) on chromosome 1q22. One affected individual from the original Kostmann pedigree was confirmed as a phenocopy. The minimal haplotype shared by affected individuals spans a candidate region of 1.2 Mb, containing several potential candidate genes.
authors.affiliation: Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.
authors.forename: M
authors.initials: M
authors.lastname: Melin
authors.forename: M
authors.initials: M
authors.lastname: Entesarian
authors.forename: G
authors.initials: G
authors.lastname: Carlsson
authors.forename: D
authors.initials: D
authors.lastname: Garwicz
authors.forename: C
authors.initials: C
authors.lastname: Klein
authors.forename: B
authors.initials: B
authors.lastname: Fadeel
authors.forename: M
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: J
authors.initials: J
authors.lastname: Palmblad
authors.forename: J I
authors.initials: JI
authors.lastname: Henter
authors.forename: N
authors.initials: N
authors.lastname: Dahl
mesh_terms: D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D006801:Humans; D019272:Leukocyte Elastase / Q000235:genetics; D008297:Male; D009503:Neutropenia / Q000151:congenital* / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D013548:Sweden
chemical_list: D019272:Leukocyte Elastase