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GENATLAS PHENOTYPE

last update : 29/11/06

Symbol	PTA2
Location	2p22.2
Name	Peters anomaly
Corresponding gene	CYP1B1
Main clinical features	corneal opacity, defects in the posterior structures of the cornea, and iridocorneal and/or keratolenticular adhesions, most frequently occurring sporadically Over 50% of subjects develop glaucoma in childhood
Genetic determination
Related entries	GLC3A
Function/system disorder	eye
Type	malformation

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types		truncated protein	described in 2 patients

Remark(s)

numerous etiologies have been proposed including chromosomal abnormalities, teratogens, and mutations in the eye developmental genes PAX6 (11p13), PITX2 (4q25q26) and FOXC1(6p25)