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

Pediatr Blood Cancer. 2008 May;50(5):1067-9. doi: 10.1002/pbc.21428.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions / genetics
  • ADP-Ribosylation Factor 6
  • ADP-Ribosylation Factors / genetics*
  • Adaptor Protein Complex 3 / genetics*
  • Adaptor Protein Complex beta Subunits / genetics*
  • Child
  • Child, Preschool
  • Cohort Studies
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Humans
  • Infant
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Lymphohistiocytosis, Hemophagocytic / genetics*
  • Male
  • Mutation / genetics
  • Polymorphism, Genetic / genetics*
  • Proteoglycans / genetics*
  • Signaling Lymphocytic Activation Molecule Associated Protein
  • Vesicular Transport Proteins / genetics*

Substances

  • 3' Untranslated Regions
  • ADP-Ribosylation Factor 6
  • AP3B1 protein, human
  • Adaptor Protein Complex 3
  • Adaptor Protein Complex beta Subunits
  • Intracellular Signaling Peptides and Proteins
  • Proteoglycans
  • SH2D1A protein, human
  • Signaling Lymphocytic Activation Molecule Associated Protein
  • Vesicular Transport Proteins
  • serglycin
  • ADP-Ribosylation Factors
  • ARF6 protein, human