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. Pediatr Blood Cancer 2008;50:1067–1069. © 2007 Wiley‐Liss, Inc.