PMC3428299_01
Homozygous MST1 nonsense mutation in one patient with EV-HPV, bacterial and fungal infections.. (A) Pedigree of the family with EV-HPV, bacterial and fungal infections. Generations are designated by a Roman numeral (I, II). P1 is represented by a black symbol. The symbol *indicates the individuals genotyped with the Affymetrix Genome-wide SNP 6.0 array. The Familial segregation of the mutation R115X is shown on the pedigree. (B) Automated sequencing profile, showing the R115X MST1 mutation in gDNA extracted from EBV-B cells from the patient and comparison with the sequence obtained from a healthy control. The C T mutation leads to the replacement at residue 115 of an Arg (R) residue by a STOP codon (X). (C) Schematic representation of the structure of the MST1 protein adapted from the work of Nehme et al.
. R115X is situated in the kinase domain, close to the previously reported R117X mutation described by Nehme et al., indicated by a black arrow. The second mutation (1103delT X369) described by Nehme et al., 1103delT X369, and the mutation described by Abdollahpour et al. (W250X) are also indicated by black arrows.
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pone-0044010-g001
The patient (P1) was born to first-cousin parents of Senegalese origin living in France (Figure 1A).