A novel PRDM13 gene duplication causing congenital North Carolina macular dystrophy phenotype in a Mexican family.

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Purpose: gene. Methods: Seven affected subjects from a Mexican family underwent a complete ophthalmic assessment that included dilated indirect ophthalmoscopy, fundus photography, optical coherence tomography (OCT), fundus autofluorescence (FAF), kinetic and chromatic perimetry, and electroretinography (ERG). Next-generation sequencing (NGS), followed by array-based comparative genomic hybridization (array-CGH) and quantitative polymerase chain reaction (qPCR) analyzes, were employed to demonstrate the causative molecular defect. Results: gene and the DNASE1 site. Conclusions: gene in this family allows for the expansion of the mutational spectrum of the disease.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.