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. 2012 Jul 13;91(1):146–151. doi: 10.1016/j.ajhg.2012.05.004

Figure 4.

Figure 4

Mutations in PIGO

(A) PIGO mutations in family A as demonstrated by whole-exome sequencing. Both affected daughters were found to be compound heterozygous for the PIGO mutations c.2869C>T and c.2361dup. The father is heterozygous for c.2361dup, and the mother is heterozygous for c.2869C>T.

(B) The affected individual from family B is compound heterozygous for c.2869C>T and c.3069+5G>A. Her mother and healthy brother II-3 are heterozygous only for c.3069+5G>A, and her healthy brother II-2 is heterozygous only for c.2869C>T.

(C) The intronic mutation results in an aberrant splicing product of transcript NM_032634, which is missing 215-bp-long exon 9.