Table 1

 (a) Mapped loci for human autosomal dominant congenital cataract, (b) identified human congenital cataract mutations

(a)
 Phenotype Locus Inheritance Reference
Volkmann (pulverulent)1p36AD 20
Posterior polar1p36AD 12
Nuclear12q12-14.1AD 21
Anterior polar14q24Translocation 22
Unknown16p13.3Translocation 23
Marner16q22.1AD 24
Posterior polar16q22.1AD 24
Anterior polar17p13AD 25
Zonular sutural (lamellar)17q11-12AD 26
Cerulean17q24AD 27
UnknownI-blood group locusAR 28
Sutural (lamellar)Xpter-XqterXR 29 30 31
(b)
Locus Gene Protein Mutation Reference
1q21-q25 GJA8 Connexin 50missense 7
2q33-q35 CRYGD γD crystallinmissense 32
2q33-q35 CRYGC γC crystallinmissense 33
10q24-25 PITX3 Pitx3missense 34
12q14 MIP MIP/AQP0missense 10
13q11-q13 CX46 Connexin 46missense 9
17q11.1-q12 CRYBA1 BA1, crystallinsplice site 26
21q22.3 CRYAA α crystallinmissense 5
22q11.2 CRYBB2 β crystallinchain termination 35
22q11.2 CRYBB2 β crystallinmissense 36