J Med Genet 1999;36:708-710 ( September )

Short report

An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2 that affects anterior eye chamber development. Angela F Davies, Ghazala Mirza, Frances Flinter, Jiannis Ragoussis

Division of Medical and Molecular Genetics, Guy's Hospital, King's College, London SE1 9RT, UK

Correspondence to: Dr Ragoussis ioannis.ragoussis{at}kcl.ac.uk

Revised version received 21 April 1999; Accepted for publication 13 May 1999

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-2, which is contained within the deleted segment and plays a role in anterior eye chamber development.


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

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© 1999 by J Med Genet
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