Sequence analysis of the GTGT-containing allele of

NCF-1 (exon 8) in genomic DNA of patient 3.Amplification and sequencing of the GTGT-containing allele revealed a G784 → A mutation in patient 3 (arrow). The mutation changes codon 262 from GGC to AGC (Gly → Ser). The patient's mother only showed the normal nucleotide G (and carried the ΔGT mutation on her other allele; not shown), whereas the father had both G and A at this position.