| N° |
Location |
DNA mutation |
Protein
mutation |
Mutation Type |
Genotype |
Affected individuals |
Ocular
Phenotype |
Non ocular phenotype |
Ethnic origin |
Inheritance |
Reference |
| 1 |
Exon 1 |
c.249delG |
p.Leu84SerfsX57 |
Deletion &frameshift |
Homozygous |
7 (from 2 families) |
Bilateral microphthalmia
and coloboma
(Bilateral microphthalmia
and “disorganized eye”
Reis et al) |
Oestrogen and insulin deficiency, leg length discrepancy |
Iran |
Recessive |
Iseri et al. 2010,
Reis et al 2011 |
| 2 |
Intron 1 |
c.371-1G>A |
Aberrant splicing |
Splice site |
Homozygous |
2 |
A/M and iris coloboma |
None |
Jewish-Syrian |
Recessive |
Bar-Yosef et al. 2004 |
| 3 |
Exon 2 |
c.422delA
c.371-?_455+?del |
p.N141Ifs*19, Deletion exon 2 |
Deletion &frameshift |
Compound heterozygous |
1 |
Bilateral anophthalmia |
None |
Egypt |
Recessive |
Present report |
| 4 |
Intron 2 |
c.456-2A>G |
Aberrant splicing |
Splice site |
Homozygous |
1 |
Severe bilateral microphthalmia, iris colobomas, retinal detachments, hypoplastic optic nerves |
None |
Turkey |
Recessive |
Burkitt-Wright 2010 |
| 5 |
Exon 3 |
Exon deletion |
~4kb del around exon 3 |
Exon deletion |
Homozygous |
16 |
A/M |
None |
Arab (Bedouin) |
Recessive |
Bar-Yosef et al. 2004 |
| 6 |
Exon 4 |
c.598C>T |
p.Arg200X |
|
Homozygous |
1 |
Bilateral anophthalmia, hypoplastic optic nerves and chiasm |
Moderate communication and learning difficulties, small head circumference. |
Afghanistan |
Recessive |
Iseri et al. 2010 |
| 7 |
Exon 4 |
c.599G>A |
p.Arg200Gln |
Missense |
Homozygous |
2 |
Bilateral microphthalmia, iris coloboma, dislocated lens, and cataract |
None |
Turkey |
Recessive |
FerdaPercin et al. 2000 |
| 8 |
Exon 4 |
c.599G>C |
p.Arg200Pro |
Missense |
Homozygous |
1 |
Bilateral microphthalmia, anterior segment dysgenesis, lens dislocation , retinal detachment |
None |
United Arab Emirates |
Recessive |
FerdaPercin et al. 2000 |
| 9 |
Exon 4 |
c.599G>C |
p.Arg200Pro |
Missense |
Homozygous |
6 (from 2 families) |
Bilateral severe microphthalmia and cloudy corneas |
None |
Qatar |
Recessive |
Faiyaz-UI-Haque et al (2007) |
| 10 |
Exon 4 |
c.71_72insG, c.667G>A |
p.Ala25Argfs*101, p.Gly223Arg (Compound heterozygous) |
Frameshift |
Compound heterozygous |
1 |
Severe bilateral colobomatousmicrophthalmia, and cataract |
None |
Unspecified |
|
Chassaing et al. 2013 |
| 11 |
Exon 4 |
c.679C>T |
p.Arg227Trp |
Missense |
Homozygous |
2 |
Isolated A/M |
None |
Arab (Bedouin) |
Recessive |
Bar-Yosef et al. 2004 |
| 11 |
Exon 4 |
c.679C>T |
p.Arg227Trp |
Missense |
Homozygous |
1 |
Extreme bilateral microphthalmia |
Hearing impairment, severe learning difficulties, autism |
Pakistan |
Recessive |
Iseri et al. 2010 |
| 12 |
Exon 4 |
c.668G>C |
p.G223A |
Missense |
Homozygous |
7 |
Bilateral microphthalmia |
None |
Pakistan |
Recessive |
Reis et al 2011 |
