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M. Ye, M. Asai-Coakwell, S. Kogan, R. Casey, O. Lehmann; Evidence of Further Genetic Heterogeneity in Axenfeld-Rieger Syndrome. Invest. Ophthalmol. Vis. Sci. 2007;48(13):5596.
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To determine the molecular mechanism in an Axenfeld-Rieger pedigree associated with short stature (SHORT syndrome).
A pedigree comprising 3 individuals affected by Axenfeld-Rieger syndrome, glaucoma and short stature was ascertained. Since a proportion of SHORT syndrome has been attributed to PITX2 encompassing deletions, quantitative PCR (qPCR), PITX2 sequencing, karyotyping and array comparative genome hybridization (CGH) were performed.
The patients were found to have a normal karyotype, excluding the presence of a large chromosomal anomaly. Similarly qPCR and sequencing did not identify any segmental rearrangement or mutation affecting PITX2 (4q25). Array CGH also excluded the possibility of a segmental duplication/deletion involving the known Axenfeld-Rieger loci (4q25, 6p25, 13q14 and 16q24), and identified one area of the genome with a reduced intensity hybridization signal.
These data exclude the possibility of a chromosomal rearrangement involving PITX2 (4q25), FOXC1 (6p25), or the reported Axenfeld-Rieger loci (13q14 and 16q24). The breadth of the clinical phenotype is in keeping with a contiguous gene syndrome and experiments are commencing to determine whether the localized reduced hybridization signal is attributable to segmental deletion or copy number polymorphism.
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