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Kinga M. Bujakowska, Isabelle Audo, Saddek Mohand-Saïd, Birgit S. Budde, Marie-Elise Lancelot, Christine Lonjou, Wassila Carpentier, José-Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz; Treats And Traps Of Homozygosity Mapping: Compound Heterozygosity In Consanguineous Retinal Dystrophy Families. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2371.
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To genetically investigate two consanguineous families of French origin with rod-cone dystrophy and Bietti Crystalline Corneoretinal Dystrophy.
Patients underwent a full ophthalmic examination (visual acuity, kinetic and static perimetry, colour vision, full-field and multifocal electroretinography, fundus autofluorescence imaging and optical coherence tomography). Informed consent was obtained from each patient and normal individual controls. The study protocol adhered to the tenets of the Declaration of Helsinki and was approved by the local ethics committee. Patients with a precise diagnosis of rod-cone dystrophy or Bietti Crystalline Corneoretinal Dystrophy were screened for genetic defects by homozygosity mapping, linkage analysis and/or direct sequencing.
In this study we have identified novel mutations in known retinal dystrophy genes USH2A (rod-cone dystrophy) and CYP4V2 (Bietti Crystalline Corneoretinal Dystrophy). Despite consanguinity the affected family members were compound heterozygous for two different mutations in the respective genes.
Homozygosity mapping is a powerful tool for the identification of novel disease causing variants in consanguineous families. Nonetheless, allelic heterogeneity may occur in such inbred pedigrees.
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