Rebeca Villanova-Aparisi

Ms. Rebeca Villanova-Aparisi

IMEGEN

Research Focus & Metrics

Academic Career Length

7Years (2020-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

View All Publications
7 December 2020 in Genes
Verified
Journal Article
Open access
PDF file
GGGema García García
Gema García García
ABAlba Berzal-Serrano
Alba Berzal-Serrano
PDPiedad García Díaz
Piedad García Díaz
RVRebeca Villanova-Aparisi
Rebeca Villanova-Aparisi
SJSara Juárez-Rodríguez
Sara Juárez-Rodríguez
EAElena Aller
Elena Aller
A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was performed using targeted next-generation sequencing (NGS) with a custom panel that included 59 genes associated with non-syndromic HL or syndromic HL. Variants were prioritized according to the minimum allele frequency and classified according to the American College of Medical Genetics and Genomics guidelines. Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal dominant (AD) and X-linked patterns of inheritance. We identified pathogenic or likely pathogenic variants in 26 different genes, 15 with AR inheritance pattern, 9 with AD and 2 that are X-linked. Fourteen of the found variants are novel. This study highlights the clinical utility of targeted NGS for sensorineural hearing loss. The optimal panel for HL must be designed according to the spectrum of the most represented genes in a given population and the laboratory capabilities considering the pressure on healthcare.