Figure 3. NDP-exon 2 deletion in the patient EVR-20. A: The pedigree chart of the family EVR-20 showed that 11 out of 19 males were affected. B: MLPA analysis of the proband (IV.5), the unaffected mother (III.12), the unaffected older sister (IV.3) and the affected older brother (IV.4). A complete deletion of NDP exon 2 was detected in the proband and his affected older brother. C: Amplification products of NDP exon 2 on ethidium bromide-stained agarose gel. Positive amplification of NDP exon 2 was shown in the unaffected mother (III.12) and older sister (IV.3) and the control. Meanwhile, negative amplification of NDP exon 2 was shown in the proband (IV.5) and his affected older brother (IV.4). *: patients who underwent genetic testing.