Fig. 1.

Identification of a novel STX11 mutation associated with familial hemophagocytic lymphohistiocytosis (FHL). a DNA sequence of STX11 in patient 1 and in the mother of patient 1 depicted by DNA electropherograms. b Schematic representation of the genomic organization of the STX11 gene and the corresponding Stx11 protein. The coding region (shaded) comprises only exon 2, and the mutation site is shown by an arrow. Protein representation contains an amino-terminal helical domain called H_abc, a carboxy-terminal helical region called H3 (SNARE core motif) and a transmembrane anchor domain (TMD). The predicted translational arrest is indicated. c Reverse transcriptase polymerase chain reaction (RT-PCR) analysis of STX11 in patients 2 (P2) and 3 (P3). Patients (lanes 1 and 2) showed bands which are indistinguishable from those derived from normally spliced mRNA (lane 3). Size markers are shown on the right; C cDNA used for RT-PCR was derived from a healthy control, NC negative control (no cDNA in the reaction mixture). d Western blot analysis of Stx11 protein expression showed absence of an approximately 35-kDa band in patient 2 (P2) and 3 (P3; lanes 2 and 4, respectively); C lysates from peripheral blood lymphocytes derived from healthy controls (lanes 1 and 3). Beta-actin was used as positive control