Figure 3. Confirmation of NDP copy number variations (CNVs) using semiquantitative multiplex PCR. Histograms of NDP exons 1, 2, and 3 from A: XDW1, B: DX1740, and C: DX1906 compared with other family members. TTLL5 exon 14 and SPATA7 exon 6 were used as controls. The relative NDP exon 1, 2, and 3 amplicon copy number ratios in the affected males were close to 0 (the normal copy number ratio should be 1 in males and 2 in females), confirming the deletion in a hemizygous state. The copy number ratios of TTLL5 exon 14 and SPATA7 exon 6 were around 2. A: XDW1 and XDW1uncle had NDP exon 2 deletion. B: DX1740 had NDP exon 2 deletion. C: DX1906 had whole NDP gene deletion.