Table 4. LTBP2 mutations to date.
| # | Ethnicity | Homozygous mutation | Exon | Protein effect | Described phenotype | Reference |
|---|---|---|---|---|---|---|
| 1 |
Pakistani |
c.412delG |
1 |
p.A138PfsX278 |
diagnosed as primary congenital glaucoma |
[13] |
| 2 |
Pakistani |
c.331C>T |
1 |
p.Q111X |
diagnosed as primary congenital glaucoma |
[13] |
| 3 |
Pakistani |
c.1243_1256del14 |
6 |
p.E415RfsX596 |
diagnosed as primary congenital glaucoma |
[13] |
| 4a |
Gypsy |
c.895C>T |
4 |
p.R299X |
diagnosed as primary congenital glaucoma |
[13] |
| 4b |
Macedonian |
c.895C>T |
4 |
p.R299X |
primary megalocornea & spherophakia |
[7] |
| 5 |
Iranian |
c.1415delC |
7 |
p.S472fsX3 |
diagnosed as primary congenital glaucoma |
[12] |
| 6 |
Iranian |
c.5376delC |
36 |
p.Y1793fsX55 |
diagnosed as primary congenital glaucoma |
[12] |
| 7 |
Moroccan |
c.1796dupC |
9 |
p.V600GfsX2 |
primary megalocornea & secondary lens-related glaucoma |
[7] |
| 8 |
South Indian |
c.5446dupC |
36 |
p.H1816PfsX28 |
spherophakia |
[15] |
| 9 |
Saudi |
c.1012delT |
4 |
p.S338fsX4 |
primary megalocornea & secondary lens-related glaucoma |
current study |
| 10 |
Saudi |
c.4855C>T |
33 |
p.Q1619X |
primary megalocornea & secondary lens-related glaucoma |
current study |
| 11 | Saudi | c.4313G>A | 29 | p.C1438Y | primary megalocornea & secondary lens-related glaucoma | current study |