Table 1 of Summers, Mol Vis 2008; 14:2010-2015.

Table 1. Genes associated with Peters anomaly and anterior segment mesenchymal dysgenesis.

Gene name Protein function Chromosome location Major phenotype associated with mutations Inheritance of ASMD Reference for ASMD
FOXE3 Transcription factor with fork-head DNA binding domain 1p32 ASMD (aphakia when homozygous or compound heterozygous) Dominant [12]
CYP1B1 Monomeric mixed function mono-oxygenase, dioxin responsive 2p22-p21 Congenital glaucoma Recessive [13]
PITX2/RIEG1 Transcription factor with bicoid paired DNA binding domain 4q25 Axenfeld-Rieger syndrome (ocular, dental and umbilical abnormalities) Dominant [14]
FOXC1 Transcription factor with forkhead DNA binding domain 6p25 Spectrum of ocular and extraocular phenotypes including congenital glaucoma, Rieger anomaly, Axenfeld anomaly, cardiac abnormalities Dominant [15]
PITX3 Transcription factor with bicoid paired DNA binding domain 10q25 Posterior polar cataract Dominant [4]
PAX6 Transcription factor with paired type DNA binding domain 11p13 Aniridia Dominant [16]
B3GALTL Glycosyl transferase 13q12.3 Peters Plus syndrome (ocular, facial, developmental and stature abnormalities) Recessive [17]