Table 2 of Zhang, Mol Vis 2012; 18:203-210.


Table 2. Summary of reported mutations in GJA3 with different congenital cataract phenotypes.

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]