Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis.
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.
Ma
Daoxin
D
Childhood Cancer Research Unit, Department of Woman and Child Health, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden.
Rudd
Eva
E
Edner
Josefine
J
Gavhed
Sofie
S
Ramme
Kim Göransdotter
KG
Fadeel
Bengt
B
Nordenskjöld
Magnus
M
Henter
Jan-Inge
JI
Zheng
Chengyun
C
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*
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