Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis

• Published in: Pediatric Blood & Cancer Vol. 50; no. 5; pp. 1067 - 1069
• Main Authors: Ma, Daoxin, Rudd, Eva, Edner, Josefine, Gavhed, Sofie, Ramme, Kim Göransdotter, Fadeel, Bengt, Nordenskjöld, Magnus, Henter, Jan-Inge, Zheng, Chengyun
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-05-2008
• Subjects: 3' Untranslated Regions - genetics; Adaptor Protein Complex 3 - genetics; Adaptor Protein Complex beta Subunits - genetics; ADP-Ribosylation Factors - genetics; AP3B1; Ap3b1 gene; ARF6; Blood; Cancer; Child; Child, Preschool; Cohort Studies; DNA Mutational Analysis; DNA sequencing; Exons; Exons - genetics; familial hemophagocytic lymphohistiocytosis; Female; Gene deletion; Histiocytosis; Humans; Infant; Intracellular Signaling Peptides and Proteins - genetics; Introns; Lymphocytosis; Lymphohistiocytosis, Hemophagocytic - genetics; Male; Medicin och hälsovetenskap; Mutation; Mutation - genetics; Polymorphism, Genetic - genetics; Proteoglycans - genetics; SH2D1A; SH2D1A protein; Signaling Lymphocytic Activation Molecule Associated Protein; SRGN; Vesicular Transport Proteins - genetics
• ISSN: 1545-5009; 1545-5017; 1545-5017; 1096-911X
• DOI: 10.1002/pbc.21428

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.