Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing

Table 2 Clinical information of 22 patients from five congenital cataract families

Family number	Patient	Gender	Age at onset	Age at diagnosis (year)	Age at surgery (year)	Phenotype of cataract
Family 1	I2	Female	On birth	9	17	Nuclear, white opacities
Family 1	II1	Male	On birth	5	6	Nuclear, white opacities
Family 2	I2	Female	On birth	17	21	Nuclear/lamellar cataract, blue punctate opacities
	II1	Female	On birth	7	9	Nuclear/lamellar cataract, blue punctate opacities
	II2	Female	On birth	2	7	Nuclear/lamellar cataract, blue punctate opacities
Family 3	II3	Female	On birth	20	20	Total cataract
	III1	Female	On birth	2	5	Total cataract
	III3	Female	On birth	2	3	Total cataract
	III4	Female	On birth	1	2	Total cataract
	IV1	Female	On birth	On birth	0.25	Total cataract
Family 4	II1	Male	On birth	10	21	Total cataract
	III2	Female	On birth	2	17	Total cataract
	IV1	Female	On birth	On birth	0.33	Total cataract
	IV2	Male	On birth	On birth	0.17	Total cataract
Family 5	III2	Female	On birth	32	60	Nuclear, white opacities
	IV1	Male	On birth	16	20	Nuclear, white opacities
	IV12	Male	On birth	12	21	Nuclear, white opacities
	V2	Female	On birth	2	5	Nuclear, white opacities
	V12	Female	On birth	On birth	2	Nuclear, white opacities
	V13	Female	On birth	On birth	2	Nuclear, white opacities
	VI1	Male	On birth	On birth	2	Nuclear, white opacities
	VI2	Male	On birth	On birth	2	Nuclear, white opacities

ISSN: 1471-2350