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Pierre Bitoun, Eva Pipiras, Brigitte Benzacken, Andree Delahaye; A Common Genetic Basis Controlling Stargardt's Macular dystrophy, Corpus Callosum and Hippocampal Development. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5391.
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We have been testing a cohort of 50 syndromic eye disease patients using CGH array for diagnostic research purposes.A Girl identified with congenital nystagmus, congenital macular dystrophy, corpus callosum agenesis, hippocampal hypoplasia and immune dysfunction born to a consanguineous family was studied
Patients have signed informed consent to participate in this research. We have used the Agilent 135k platform to identify copy number variations not previously described in the Toronto Genome Variant database,Variants were validated by real time PCR and family was screened for 18 recessive macular dystrophy genes and ABCA4 sequencing . Patients were studied with ocular biomicrosopy, ERG , VEP , OCT , brain MRI and Multifocal ERG
This has allowed us to identify a candidate region that seems to act as a control region for expression of the ABCA4 stargardt's macular dystrophy , corpus callosum and Hippocampal development patterning and immune function against viral pathogens . Futher tests are in process to confirm segregation of ABCA4 variants IVS45+7G>A and S2255I within the pedigree and better understanding of the variants identified.
CGH array is a useful tool to study rare forms of syndromic ocular anomalies. Stargardt's disease ABCA4 non-synonymous variants previously identified as possibly non-pathogenic can become pathogenic when associated with variants in the control region identified .
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