A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family

Table 3

Mutations previously described in the CRYBB2 gene associated with congenital cataracts in human.

Bp exchange	Aa exchange	Biologic consequence	Origin of family	Reference
c.C5T	p.A2V	Posterior subcapsular	Chinese	[26]
c.T62A	p.I21N	ADCC	Chinese	[27]
c.C92G	p.S31W	Coronary cataract	Chinese	[28]
c.G54A	p.(=)	ADCC	Indian	[29]
	p.W59C	ADCC	Indian	[29]
c.A383T	p.D128V	ADCC	German	[30]
c.C428T	p.S143F	ADCC	Italian	[31]
c.C433T	p.E145W	ADCC	Danish/German	[32, 33]
c.G436T	p.V146M	ADCC	Chinese	[27]
c.A440G	p.Q147R	ADCC	Danish/German	[32, 33]
c.C449T	p.T150M	ADCC	Danish/German	[32, 33]
c.G465T	p.W151C	ADCC	Chinese	[34]
		Central nuclear	Indian	[35]
c.C475T	p.Q155X	Sutural opacity and fish tail-like branches	American	[36]
		Cerulean	American	[37]
		ADCC	Canadian	[6]
		ADCC	Chilean	[38]
		Progressive polymorphic coronary ADCC	Indian	[9]
		Cerulean ADCC	Chinese	[39]
		Progressive polymorphic	Chinese	[8]
c.C477A	p.Y159X	ADCC	Danish	[32]
c.G607A	p.V187M	Nuclear cataract	Basotho	[40]
c.G563A	p.R188H	ADCC	German	[41]