An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development.
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-2alpha, which is contained within the deleted segment and plays a role in anterior eye chamber development.
Davies
A F
AF
Division of Medical and Molecular Genetics, Guy's Hospital, King's College, London, UK.
Mirza
G
G
Flinter
F
F
Ragoussis
J
J
D002872:Chromosome Deletion; D018244:Chromosomes, Artificial, Yeast; D002896:Chromosomes, Human, Pair 6; D004268:DNA-Binding Proteins / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics*; D051858:Forkhead Transcription Factors; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D008850:Microphthalmos / Q000235:genetics; D020161:Physical Chromosome Mapping; D014157:Transcription Factors / Q000235:genetics
D004268:DNA-Binding Proteins; C112743:FOXC1 protein, human; D051858:Forkhead Transcription Factors; D014157:Transcription Factors