Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract

Table 2

The known PITX3 mutations associated with cataracts (NM_005029.4).

	Nucleic acid change	Protein change	Positions	Types	Mode	Numbers	Clinical phenotypes	References
1	c.38G > A	p.S13 N	Exon2	Missense	AD, heterozygous	2	ADCC, glaucoma, peters abnormality	[25, 30]
2	c.640_656dup	p.G220PfsX95	Exon4	Frameshift	AD, heterozygous	14	ADCC, PPC, ASMD	[14–17, 19, 23, 25, 30]
3	c.650delG	p.G217AfsX91	Exon4	Frameshift	AD/AR	2	PPC; microphthalmia with severe developmental delay (AR)	[14, 18]
4	c.542delC	p.P181LfsX127	Exon4	Frameshift	AD, heterozygous	1	PPC	[21]
5	c.640_656del	p.A214RfsX42	Exon4	Frameshift	AD/AR	2	PSC; microphthalmia with corneal sclerosis (AR)	[22, 26]
6	c.573delC	p.S192AfsX117	Exon4	Frameshift	AD, heterozygous	1	ADCC, ASMD	[23]
7	c.608delC	p.A203GfsX106	Exon4	Frameshift	AD, heterozygous	2	ADCC, PSC, nystagmus	[24, 26]
8	c.582delC	p.I194MfsX115	Exon4	Frameshift	AD, de novo	1	ADCC, microphthalmia, developmental delay, autism	[25]
9	c.669delC	p.L225WfsX84	Exon4	Frameshift	AD/AR	1	ADCC; ASMD, sclerosing cornea (AR)	[25]
10	c.797_814del	p.S266_A271del	Exon4	In-frame	AD, heterozygous	1	PSC	[27]
11	c.470−477dup	p.A160RfsX152	Exon4	Frameshift	AD, heterozygous	1	Nuclear cataract	[28]

Note. AD: autosomal dominant inheritance; AR: autosomal recessive inheritance; de novo: newly identified mutation; ADCC: autosomal dominant congenital cataract; ASMD: anterior segment mesenchyme dysplasia; PPC: posterior polar cataract; PSC: posterior subcapsular cataract.