Table 3. Summary of detected mutations and changes.

patients	patient group	Nucleotide change		Amino acid change		Exon
		PAX6(-5a)	PAX6(+5a)	PAX6(-5a)	PAX6(+5a)
A	1	972C>T	1014C>T	Q179X	Q193X	8
B-I-2, B-II-1 and B-II-2	1	555C>A	555C>A	C40X	C40X	5
C-I-2 and C-II-1	1	579delG	621delG	V48fsX53	V62fsX67	6
D	3	IVS2+9G>A	IVS2+9G>A
E-I-1, E-II-1 and E-II-2	3	572T>C	572T>C	L46P	L46P	5
F-I-2, F-II-2, F-II-4,
F-IV-2, F-IV-5, F-IV-8, F-V-1, F-V-3, F-V-4, F-V-5, F-V-6, F-V-7, F-V-11, F-V-14	3	655A>G	697A>G	S74G	S88G	6

We show the pedigrees of the affected patients whenever they were available with certainty. We also indicate the sequence of the six mutations reported in this study. Each mutation is associated with the affected patients from the clinical group 1 corresponding to aniridia phenotypes or from the group 3 corresponding to other ocular phenotypes associated in one large family (F) with neurological anomalies. A and D are isolated cases whereas B, C, E, and F refer to familial cases (see Figure 2). The exon in which the mutated amino acid residue is located is mentioned. Each mutation is named according to the nucleotide change and the corresponding amino acid modification for the two major isoforms: Pax6(-5a), comprising 422 amino acids, and PAX6(+5a), comprising 436 amino acids resulting from alternative splicing.