Skip to main content

Table 3 Frequency of the novel SNPs, identified in the four screened genes, on 50 normal controls.

From: Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation

Gene/Variation

Homozygous (for the variation)

Heterozygous (for the variation)

Wild type

 

IVS2 -24A>G

11 (22%)

0

39 (78%)

LIM2

IVS4 +32C>T

39 (78%)

11 (22%)

0

 

c.*15A>C

35 (70%)

15 (30%)

0

 

IVS4 -274insG

46 (92%)

4 (8%)

0

PAX6

IVS12 -174G>A

0

9 (18%)

41 (82%)

 

IVS4 -195G>A

11 (22%)

25 (50%)

14 (28%)

PITX3

c.930C>A (exon 4)

0

0

50 (100%)

HSF4

IVS7 +93C>T

0

0

50 (100%)