ArticleHuman genetics2025
Human organoids for rapid validation of gene variants linked to cochlear malformations.
Article in Human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Inner Ear Organoids: Recent Progress and Challenges.Stem cell reviews and reports · 2026Review
- Article
- Advances and prospects of 3D air-liquid interface cultured middle ear epithelial cells and inner ear organoids in otologic diseases.Frontiers in bioengineering and biotechnology · 2026Review
- Computer models and artificial intelligence increase the fidelity and efficiency of the in vitro models for hearing loss.Biomedical engineering online · 2025Review
- Study Models for Non-Syndromic Hearing Loss.Cells · 2025Review
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Abstract
Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with congenital. The majority of patients with cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or the inability to make conclusive interpretations of identified genetic variants. We used exome sequencing for the genetic evaluation of hearing loss associated with cochlear malformations in three probands from unrelated families deafness. We subsequently generated monoclonal induced pluripotent stem cell (iPSC) lines, bearing patient-specific knockins and knockouts using CRISPR/Cas9 to assess pathogenicity of candidate variants. We detected FGF3 (p.Arg165Gly) and GREB1L (p.Cys186Arg), variants of uncertain significance in two recognized genes for deafness, and PBXIP1(p.Trp574*) in a candidate gene. Upon differentiation of iPSCs towards inner ear organoids, we observed developmental aberrations in knockout lines compared to their isogenic controls. Patient-specific single nucleotide variants (SNVs) showed similar abnormalities as the knockout lines, functionally supporting their causality in the observed phenotype. Therefore, we present human inner ear organoids as a potential tool to validate the pathogenicity of DNA variants associated with cochlear malformations.
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