Table 1

Mapped autosomal dominant and X linked cataract loci predominantly involving the eye

PhenotypeChromosomeGeneAbbreviationReference
Volkmann1p36 9
Posterior polar1pter-p36.1 10
Zonular pulverulent1q21-25Connexin 50CX50 (GJA8, MP70) 11, 12
Coppock-like2q33-35γ crystallin CCRYGC 13
Aculeiform/punctate2q33-35γ crystallin DCRYGD 13, 14
Polymorphic (lamellar)2q33-35 15
Nuclear sutural3q21.2-22.3 16
Congenital cataract plus or minus anterior segment mesenchymal dysgenesis10q25Paired-like homeodomain transcription factor 3PITX3 29
Aniridia and cataract11p13Paired box gene 6PAX6 30
Pulverulent13qConnexin 46CX46 (GJA3) 17
Anterior polar14q24-qter 18
Marner (pulverulent)16q22 19
Anterior polar17p13 20, 21
Zonular sutural (lamellar)17q11-12βA3/A1-crystallinCRYBA1 22
Cerulean17q24 23
Zonular central nuclear21q22.3α crystallinCRYAA 24
Cerulean/Coppock-like22qβ2 crystallinCRYBB2 25, 26
Hyperferritinaemia cataract syndrome19q13.3-13.4Ferritin light chainFTL 27, 31
Nance-Horan syndromeXp22.3-21.1 28