Mutations in the forkhead transcription-factor gene (FOXC1), have been shown to cause defects of the anterior chamber of the eye that are associated with developmental forms of glaucoma. Discovery of these mutations was greatly facilitated by the cloning and characterization of the 6p25 breakpoint in a patient with both congenital glaucoma and a balanced-translocation event involving chromosomes 6 and 13. Here we describe the identification of novel mutations in the FOXC1 gene in patients with anterior-chamber defects of the eye. We have detected nine new mutations (eight of which are novel) in the FOXC1 gene in patients with anterior-chamber eye defects. Of these mutations, five frameshift mutations predict loss of the forkhead domain, as a result of premature termination of translation. Of particular interest is the fact that two families have a duplication of 6p25, involving the FOXC1 gene. These data suggest that both FOXC1 haploinsufficiency and increased gene dosage can cause anterior-chamber defects of the eye.

Item Type:	Refereed Article
Research Division:	Biological Sciences
Research Group:	Genetics
Research Field:	Genome structure and regulation
Objective Division:	Health
Objective Group:	Clinical health
Objective Field:	Clinical health not elsewhere classified
UTAS Author:	Craig, JE (Mr Jamie Craig)
UTAS Author:	Mackey, DA (Professor David Mackey)
ID Code:	22723
Year Published:	2001
Web of Science® Times Cited:	161
Deposited By:	Menzies Centre
Deposited On:	2001-08-01
Last Modified:	2011-08-03
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