Figure 2.

(a) Agarose gel electrophoresis of 1 kb Plus DNA ladder and PCR products amplified from the DNAs of affected child [K1_1], mother [K1_2] and father [K1_3]. PCR was performed using primers designed 101 bp 5′ of the Splice Acceptor Site of Exon 3 and 677 bp 3′ of the Splice Donor Site of Exon3 of the OCRL1 gene. Note the absence of the lower molecular weight fragment in the mother, suggesting de novo occurrence of the mutation in the affected child. (b) Schematic depicting the mutant sequence, harboring a novel, de novo 462 bp deletion: c.187_199+449del (p.Arg63fsX) involving the last 13 nt of exon 3 of OCRL1. The mutant sequence shows the frameshift in exon 3 and the out of frame amino acid sequence, assuming the deletion results in inclusion of the residual intron 3.