Table 1. Examples of Cataractogenic Mutations in Humans and Animal Orthologue Genes Encoding Transcription Factors and Lens Proteins.

Gene Category	Gene	Protein Affected	Phenotype of Mutations in Human Lens, Type of Cataract	Chromosome Location	OMIM	Phenotype of Mutations in Animal Lens	OMIM
crystallins	CRYAA	aA crystallin	nuclear opacity	21q22.3	123580
	CRYAB	aB crystallin	posterior polar	11q22.3	123590
	CRYBB1	bB1 crystallin	Nuclear and cortical pulverulent	22q11	600929
	CRYBB2	bB2 crystallin	Cerulean/nuclear pulverulent/sutura	22q11.2	123620
	CRYBA1	bB2 crystallin	Nuclear sutural/pulverulent	17q11.1-12	123610
	CRYGC	gC crystallin	Nuclear pulverulent/lamellar	2q33-35	123680
	CRYGD	gD crystallin	Pulverulent/lamellar, cerulean/aculeiform/nuclear	2q33-35	123690
cell-cell communication	MIP	AQP0/MIP26	Polymorphic/lamellar	12q12	154050
	CX50/GPJA8	connexin50	Nuclear pulverulent	1q22-23	600897
	CX46/GPJA3	Connexin46	Nuclear pulverulent cataract	13q11-13	121015
transcription factors	PITX3	PITX3	Total cataract	10q24-25	9620774	Aphakia	9328475
	MAF	MAF	Nuclear, pulverulent, iris coloboma	16q23.2	177075; 12620964	Microphthalmia, anterior segment dysgenesis	11772997
	HSF4	Heat shock transcription factor 4	Lamellar	16q22	602438
	PAX6	PAX6	Microphthalmia (heterozygous), aniridia, brain abnormalities (homozygous)		8689689, 10361984, 1302030, 11481423	Microphthalmia, aniridia, brain abnormalities	11481423
	SOX1	SOX1	nd			Lens dysgenesis	9512512; 9609835
adhesion, cell fusion	LIM2/MP20	LIM2	Pulverulent cataract, late onset	19q13.4	154045	Refractive defects