title: Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis.
abstract: In the present study, DNA sequencing of the genes SRGN, ARF6, AP3B1, and SH2D1A was performed in a well defined cohort of 18 families with familial hemophagocytic lymphohistiocytosis (FHL). A heterozygous nucleotide change (C > T) in the 3'untranslated region of the SRGN gene and a monoallelic 3-base pair deletion (c.2409_2411delGAA) in exon 21 of the AP3B1 gene were observed in two different families. Additionally, two novel polymorphisms, one in intron 17 of AP3B1 and another in intron 2 of SH2D1A were identified. We conclude that mutations in SRGN, ARF6, and AP3B1 are not likely to be common in patients fulfilling the FHL criteria.
authors.affiliation: Childhood Cancer Research Unit, Department of Woman and Child Health, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Daoxin
authors.initials: D
authors.lastname: Ma
authors.forename: Eva
authors.initials: E
authors.lastname: Rudd
authors.forename: Josefine
authors.initials: J
authors.lastname: Edner
authors.forename: Sofie
authors.initials: S
authors.lastname: Gavhed
authors.forename: Kim Göransdotter
authors.initials: KG
authors.lastname: Ramme
authors.forename: Bengt
authors.initials: B
authors.lastname: Fadeel
authors.forename: Magnus
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: Jan-Inge
authors.initials: JI
authors.lastname: Henter
authors.forename: Chengyun
authors.initials: C
authors.lastname: Zheng
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D000089982:ADP-Ribosylation Factor 6; D020727:ADP-Ribosylation Factors / Q000235:genetics*; D033963:Adaptor Protein Complex 3 / Q000235:genetics*; D033966:Adaptor Protein Complex beta Subunits / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D011509:Proteoglycans / Q000235:genetics*; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D000089982:ADP-Ribosylation Factor 6; C439973:AP3B1 protein, human; D033963:Adaptor Protein Complex 3; D033966:Adaptor Protein Complex beta Subunits; D047908:Intracellular Signaling Peptides and Proteins; D011509:Proteoglycans; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D033921:Vesicular Transport Proteins; C075430:serglycin; D020727:ADP-Ribosylation Factors; C000715348:ARF6 protein, human