Table 2 of Zhang, Mol Vis 2012; 18:203-210.
Mutation | Location | Cataract type | Phenotype description | Family origin | Reference |
---|---|---|---|---|---|
p.D3Y | NH2-terminus | Zonular pulverulent | Progressive zonular pulverulent cataract | Hispanic | [14] |
p.L11S | NH2-terminus | Ant-egg | lamellar cataract with dense pearl-like or ant-egg-like structures imbedded in the lens | Danish | [15] |
p.V28M | First transmembrane domain (TM1) | Variable | Total or anterior capsular with posterior cortical opacitiey in different affect persons | Indian | [12] |
p.F32L | First transmembrane domain (TM1) | Nuclear pulverulent | Punctate opacities in the central zone of the lens limited to the embryonal nucleus | Chinese | [8] |
p.R33L | First transmembrane domain (TM1) | Embryonal nuclear granular | a band of numerous granular opacities involving the embryonal nucleus | Indian | [17] |
p.V44M | First extracellular loop (EL1) | Nuclear | central nuclear opacity involving embryonic and fetal nucleus with punctate cortical opacities | Chinese | [18] |
p.W45S | First extracellular loop (EL1) | Nuclear | Progressive nuclear cataract | Chinese | [13] |
p.D47N | First extracellular loop (EL1) | Nuclear | central nuclear opacity affecting the embryonic and fetal nucleus of the lens | Chinese | [19] |
p.P59L | First extracellular loop (EL1) | Nuclear punctate | Coarse opacities located in the central region of the lens | American | [9] |
p.N63S | First extracellular loop (EL1) | Zonular pulverulent | Fine dust-like opacities in the central region of the lens | Caucasian | [6] |
p.R76G | Boundary of EL1 and TM2 | Total | Total opacitiey of the lens | Indian | [12] |
p.R76H | Boundary of EL1 and TM2 | Zonular pulverulent | Faint lamellar nuclear opacity surrounding pulverulent nuclear opacityis with gold dots or fine haze or needle-like peripheral riders | Australian | [11] |
p.T87M | Second transmembrane domain (TM2) | Pearl box | Fine white spots made up the opacity of the fetal nucleus . The embryonalnucleus was composed of coarse white spots of various sizes. | Indian | [16] |
p.P187L | Second extracellular loop (EL2) | Zonular pulverulent | “Dust-like opacity affectingthe embryonal,fetal and infantile nucleuws of lesns surrounded by snowflake-like opacities in the anterior and posterior cortical region of the lens” | Caucasian | [7] |
p.P187S | Second extracellular loop (EL2) | Nuclear pulverulent | central nuclear opacity with punctate opacities | Chinese | [20] |
p.N188T | Second extracellular loop (EL2) | Nuclear pulverulent | Progressive zonular pulverulent cataract affecting the embryonic and fetal nucleus of the lens | Chinese | [10] |
p.N188I | Second extracellular loop (EL2) | Zonular pulverulent | coral-like nuclear opacity involving embryonic and fetal nucleus surrounded by blue punctate cortical opacities | Chinese | Present study |
p.S380fs | COOH-terminus | Zonular pulverulent | Coarse and granular opacities located in the central region of the lens.Fine dust-like opacities predominated in the peripherial zone of the lens. | Caucasian | [6] |