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Article

Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.

Scientific reports - 7 Jan 2022

Buonfiglio Paula I, Bruque Carlos D, Lotersztein Vanesa, Luce Leonela, Giliberto Florencia, Menazzi Sebastián, Francipane Liliana, Paoli Bibiana, Goldschmidt Ernesto, Elgoyhen Ana Belén, Dalamón Viviana

Abstract excerpt

Hearing loss is a heterogeneous disorder. Identification of causative mutations is demanding due to genetic heterogeneity. In this study, we investigated the genetic cause of sensorineural hearing loss in patients with severe/profound deafness. After the exclusion of GJB2-GJB6 mutations, we performed whole exome sequencing in 32 unrelated Argentinean families. Mutations were detected in 16 known deafness genes in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34997062
DOI: 10.1038/s41598-021-04081-2
PMCID: PMC8741999

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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