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

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]