INGEBI 02650
INSTITUTO DE INVESTIGACIONES EN INGENIERIA GENETICA Y BIOLOGIA MOLECULAR "DR. HECTOR N TORRES"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
Molecular analysis of Hereditary Hearing Loss in Argentina: Hearing the Genome.
Autor/es:
DALAMÓN, VIVIANA KARINA
Lugar:
Ciudad Autonoma de Buenos Aires
Reunión:
Congreso; 1st World Congress of Pediatric ENT; 2019
Institución organizadora:
FASO
Resumen:
Hearing loss (HL) is is the most common sensory disorder affecting 1:500 newborn children. Itis characterized by the presence of a large genetic heterogeneity, and to date, over 100 different geneshave been identified worldwide. The large amount of genes involved as well as the genotypeheterogeneity, lead us to design a multistep diagnosis strategy using Whole Exome SequencingTechnique (WES). The main objective of this project was to identify causative mutations ofHereditary Hearing Loss in Argentinean deaf families, analyze and predict the functional impact ofthem in the pathology, and discover novel mutations or new genes involved in deafness.A flowchart was designed in order to exclude all the spurious variations obtained from WES and targetfor few candidates for further analysis. Filtering process was performed taking into account: genesrelated to pathology, mode of inheritance, minor allele frequency (MAF
