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.

journal_name

Pediatr Blood Cancer

journal_title

Pediatric blood & cancer

authors

Ma D,Rudd E,Edner J,Gavhed S,Ramme KG,Fadeel B,Nordenskjöld M,Henter JI,Zheng C

doi

10.1002/pbc.21428

subject

Has Abstract

pub_date

2008-05-01 00:00:00

pages

1067-9

issue

5

eissn

1545-5009

issn

1545-5017

journal_volume

50

pub_type

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