ArticleHuman mutation2021
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.
Article in Human mutation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- Transcriptomic and metabolomic basis of seasonal auditory sensitivity variations in the red-eared slider (Trachemys scripta elegans).BMC genomics · 2025Article
- The known structural variations in hearing loss and their diagnostic approaches: a comprehensive review.Molecular biology reports · 2025Review
- Tectorial membrane: structure, function, and its implications for hearing loss.Frontiers in neurology · 2025Review
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.Human genetics · 2024Article
- Genetic analysis of 106 sporadic cases with hearing loss in the UAE population.Human genomics · 2024Article
- MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.BMC medical genomics · 2024Article
- Long-Read Sequencing Identified aHuman mutation · 2024Article
- Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.Nature communications · 2023Article
- Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.Human genetics · 2022Review
- Utility of Whole Genome Sequencing for Population Screening of Deafness-Related Genetic Variants and Cytomegalovirus Infection in Newborns.Frontiers in genetics · 2022Article
- Compound Heterozygosity forAudiology research · 2021Article
- Article
- The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 2 countries.
Funding
Abstract
Bi-allelic loss-of-function variants of OTOA are a well-known cause of moderate-to-severe hearing loss. Whereas non-allelic homologous recombination-mediated deletions of the gene are well known, gene conversions to pseudogene OTOAP1 have been reported in the literature but never fully described nor their pathogenicity assessed. Here, we report two unrelated patients with moderate hearing-loss, who were compound heterozygotes for a converted allele and a deletion of OTOA. The conversions were initially detected through sequencing depths anomalies at the OTOA locus after exome sequencing, then confirmed with long range polymerase chain reactions. Both conversions lead to loss-of-function by introducing a premature stop codon in exon 22 (p.Glu787*). Using genomic alignments and long read nanopore sequencing, we found that the two probands carry stretches of converted DNA of widely different lengths (at least 9 kbp and around 900 bp, respectively).
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