Figure 1

A, shows the pedigree chart of the Indian PJS family showing the novel 4 bp deletion (c.790_793delTTTG) in the STK11 gene. The proband is indicated by an arrow. The younger sister (II.3) did not show the classical symptoms of PJS and hence is represented with a "?". B, shows the electropherogram presenting a heterozygous 4 bp deletion (-TTTG) at position 790 (c.790_793delTTTG) of the STK11 gene as indicated by the arrow. The deletion mutation leads to a premature stop codon at 286, truncating the protein leading to partial loss of its catalytic kinase domain and complete loss of the regulatory domain.