Molecular Vision: Khan, Mol Vis 2011; 17:2570-2579. Table 4

Table 4. LTBP2 mutations to date.

#	Ethnicity	Homozygous mutation	Exon	Protein effect	Described phenotype	Reference
1	Pakistani	c.412delG	1	p.A138PfsX278	diagnosed as primary congenital glaucoma	[13]
2	Pakistani	c.331C>T	1	p.Q111X	diagnosed as primary congenital glaucoma	[13]
3	Pakistani	c.1243_1256del14	6	p.E415RfsX596	diagnosed as primary congenital glaucoma	[13]
4a	Gypsy	c.895C>T	4	p.R299X	diagnosed as primary congenital glaucoma	[13]
4b	Macedonian	c.895C>T	4	p.R299X	primary megalocornea & spherophakia	[7]
5	Iranian	c.1415delC	7	p.S472fsX3	diagnosed as primary congenital glaucoma	[12]
6	Iranian	c.5376delC	36	p.Y1793fsX55	diagnosed as primary congenital glaucoma	[12]
7	Moroccan	c.1796dupC	9	p.V600GfsX2	primary megalocornea & secondary lens-related glaucoma	[7]
8	South Indian	c.5446dupC	36	p.H1816PfsX28	spherophakia	[15]
9	Saudi	c.1012delT	4	p.S338fsX4	primary megalocornea & secondary lens-related glaucoma	current study
10	Saudi	c.4855C>T	33	p.Q1619X	primary megalocornea & secondary lens-related glaucoma	current study
11	Saudi	c.4313G>A	29	p.C1438Y	primary megalocornea & secondary lens-related glaucoma	current study