Analysis of the effect of c.310-3_5del CTT deletion. (A) Amplification of the exon 4-6 region of DMT1 mRNA from whole blood. cDNA was synthesized as described in “Patient, materials, and methods.” The exon 4-6 region of DMT1 cDNA was amplified by PCR, and the product was separated on 1% agarose gel. (lane 1) 1-kb DNA ladder. (lane 2) I-1. (lane 3) Proband. (lane 4) I-2. (lane 5) Healthy control. (lane 6) No template control. The top band measures 298 bp, and the bottom band in lanes 2 and 3 measures 178 bp. (B) Sequencing of PCR product of the 178-bp band (A) of II-1, resulting in exon 5 skipping and a 40 amino acid loss in the protein. (C) Schematic representation of DMT1 exon 5 skipping in the proband.