Table 3.

Molecular analysis results

Patient	Occurrence	MLPA	PAX6 gene sequencing	PAX6 gene promoter sequencing
p1	F	N	c.718C > T	–
p2	F	N	N	N
p3	S	N	N	N
p4	S	N	c.949C > T	–
p5	S	N	c.357 + 1G > A	–
p6	No data	N	N	N
p7	F	N	c.949C > T	–
p8	S	Heterozygous deletion: PAX6, DCDC1, ELP4, BDNF, FSHB	N	–
p9	S	Heterozygous deletion: PAX6, DCDC1, ELP4, FSHB, RCN1, DKFZp686k1684	N	–
p10	F	Heterozygous deletion: DCDC1, DPH4, IMMP1L, ELP4	N	–
p11	S	Heterozygous deletion of the 11p13 region (including WT1)	N	–
p12	F	Heterozygous deletion: exons 1–8 of PAX6	N	–

F familial, S sporadic, N normal sequence