FIGURE 2.

Transcript analyses confirming the impact of both candidate variants on ATM. (A) PCR gel of RT-PCR products after amplification of cDNA sequences surrounding the variant c.2250G > A for an unrelated control, father, mother, and proband. (B) Sequence of the PCR product, shorter than expected from the proband, obtained with Sanger Sequencing. (C) Alignment of the proband’s cDNA ATM sequence with ATM RefSeq visualized using UCSC browser. (D) PCR gel of RT-PCR products after amplification of cDNA sequences surrounding the variant c.1803-270T > G for an unrelated control, father, mother, and proband. (E) Sequence of the PCR product, longer than expected from the proband, obtained with Sanger Sequencing. (F) Alignment of the proband’s cDNA ATM sequence with ATM RefSeq in UCSC browser.