Table 2

Identified human congenital cataract mutations

Locus	Gene	Protein	Mutation	No of mutations	Phenotype	OMIM No	Reference
1q21-q25	GJA8	Connexin 50	Missense	2	Pulverulent	600897 (11622)	41
2q33-q35	CRYGC	γC-crystallin	Missense^2-150	1	Coppock-like	604307 (123660)	49, 50
2q33-q35	CRYGC	γC-crystallin	Missense	1	Aceuliform	604307	50
2q33-q35	CRYGD	γD-crystallin	Missense	1	Nuclear	123690	51
10q24-25	PITX3	Pitx3	Missense	1	Total	602669	37
13q11-q13	GJA3	Connexin 46	Missense	2	Pulverulent	121015 (601885)	43
17q11.1-q12	CRYBA1	βA3 crystallin	Splice site	1	Sutural	600881	54
21q22.3	CRYAA	αA-crystallin	Missense	1	Zonular central nuclear	123580	56
22q11.2	CRYBB2	βB2-crystallin	Chain termination	1	Cerulean	123620 (601547)	52
22q11.2	CRYBB2	βB2-crystallin	Missense	1	Coppock-like	604307	53

OMIM refers to Online Mendelian Inheritance in Man (http://www3.ncbi.nih.gov/Omim/searchomain.html)
↵2-150 Re-examination of the original data suggests that the sequence changes noted originally in the γE-pseudogene may not be the cause of the cataract.50