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Logo of jmedgeneJournal of Medical GeneticsCurrent TOCInstructions for authors
J Med Genet. Sep 1999; 36(9): 708–710.
PMCID: PMC1734421
An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2α that affects anterior eye chamber development.
A. Davies, G. Mirza, F. Flinter, and J. Ragoussis
Division of Medical and Molecular Genetics, Guy's Hospital, King's College, London, UK.
The FKHL7 gene has been implicated in the pathogenesis of glaucoma/autosomal dominant iridogoniodysgenesis (IGDA) (IRID1). This has been supported by mutations in some glaucoma and IGDA patients and the development of anterior eye chamber anomalies in patients with 6p deletions affecting the 6p25 region. We report a case with anterior eye chamber anomalies and an interstitial deletion of 6p24-p25 that does not include the FKHL7 gene, suggesting the possible additional involvement of another locus, within 6p24-6p25, in anterior eye chamber development. A candidate gene is AP-2α, which is contained within the deleted segment and plays a role in anterior eye chamber development.

Keywords: anterior eye chamber defect; AP-2α; cardiac defect; FKHL7
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