GJB2 and GJB6 genetic variant curation in an Argentinean non-syndromic hearing impaired cohort

LEONELA N LUCE; MENAZZI SEBASTIAN; DALAMÓN, VIVIANA KARINA; BRUQUE CARLOS DAVID; VANESA LOTERSZTEIN; ANA BELEN ELGOYHEN; BUONFIGLIO PAULA; FLORENCIA GILIBERTO; BIBIANA PAOLI

genes

MDPI Genes Editorial Office

Lugar: Basel; Año: 2020

2073-4425

Genetic variants in GJB2 and GJB6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. Molecular diagnosis enables proper genetic counseling and medical prognosis to patients. In this study, we present an update of testing results in a cohort of Argentinean non-syndromic hearing impaired individuals. A total of 48 different sequence variants were detected in genomic DNA from patients referred to our laboratory. They were manually curated and classified based on ACMG/AMP standards and hearing-loss-gene-specific criteria of the ClinGen Hearing Loss Expert Panel. More than 50% of sequence variants were reclassified from their previous categorization in ClinVar. These results provide an accurately interpreted set of variants to be taken into account by clinicians and the scientific community and hence, aid the precise genetic counseling to patients.