Molecular Vision: Darbari, Mol Vis 2020; 26:757-765. Table 1

Table 1. Genes associated with Peters anomaly*

Gene	Chromosome position	Selected biologic functions	Associated anomalies	Inheritance	Peters anomaly- related references
B3GLCT	13q12	Beta-1,3-glucosyltransferase	Peters Plus syndrome	AR	[9,10,20-22]
CDH2	18q12	Cell-cell adhesion, member of the cadherin superfamily	Eye, heart, brain, and skeletal anomalies, Peters anomaly	AD	[11]
COL4A1	13q34	Collagen component of basement membrane	Cerebrovascular disease presentations with ocular, kidney, & muscle anomalies	AD	[23]
CYP1B1	2p22	Cytochrome P450 monooxygenase	Primary congenital glaucoma	AR	[42,43]
DOP1B	21q22	Developmental roles in various organisms, brain development, member of Dopey gene family	Association with Down syndrome	AR	Present study
FLNA	Xq28	Actin-binding protein	Otopalatodigital spectrum	XLR	[12]
FOXC1	6p25	Transcription factor	Anterior segment dysgenesis, Axenfeld–Rieger syndrome	AD	[24-27]
FOXE3	1p33	Transcription factor	Microphthalmia, cataract, anterior segment dysgenesis	AD	[44,45]
HCCS	Xp22	Holocytochrome C-type synthetase cytidylyltransferase-like protein	Microphthalmia, MLS syndrome, Peters anomaly, Walker-Warburg syndrome	XLD	[12]
NCAPG2	7q36	Chromosome condensation, member of condensin II complex	Khan-Khan-Katsanis syndrome, severe neurodevelopmental defects including ocular abnormalities	AR	[13]
NDP	Xp11	Member of canonical Wnt signaling pathway	Norrie disease, familial exudative vitreoretinopathy	XLR	[12]
PAX6	11p13	Transcription factor	Anterior segment dysgenesis, cataract	AD	[46]
PITX2	4q25	Transcription factor	Anterior segment dysgenesis Axenfeld–Rieger syndrome	AD	[28,29]
POMT2	14q24.3	O-mannosyltransferase2	Muscular dystrophy-dystroglycanopathy, Walker-Warburg syndrome	AR	[14]
PITX3	10q24	Transcription factor	Anterior segment dysgenesis, cataract	AD	[30]
PROC	2q14	Inactivator of coagulation factors Va and VIIIa	Hereditary thrombophilia	AR	[15]
PTCH1	9q22	Receptor for secreted hedgehog ligands	Basal cell Nevus syndrome, holoprosencephaly 7	AD	[16]
RERE	1p36.23	Transcriptional regulation, regulator of retinoic acid signaling	Neurodevelopment disorder with or without anomalies of brain, eye or heart	AD	[17]
SLC4A11	20p13	SLC4 bicarbonate transporter	Corneal endothelial dystrophy 2	AR	[12]
TFAP2A	6p24	Transcription factor	Branchiooculofacial syndrome	AD	[12]
WDR37	10p15	Member of the WD repeat protein family	Neurooculocardiogenitourinary syndrome	AD/AR	[18]
WFS1	4p16	Cation-selective ion channel	Wolfram-like Syndrome	AD	[19]