ArticleHuman molecular genetics2020
A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58.
Article in Human molecular genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 19 citations in OpenAlex.
- A Structural Variant in the 5' Regulatory Region ofInternational archives of otorhinolaryngology · 2026Article
- Comprehensive analysis of aberrant alternative splicing and RNA binding proteins associated with age-related sensorineural hearing loss.Scientific reports · 2025Article
- The known structural variations in hearing loss and their diagnostic approaches: a comprehensive review.Molecular biology reports · 2025Review
- Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements.medRxiv : the preprint server for health sciences · 2024Article
- Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.Biomedicines · 2023Review
- The long and short: Non-coding RNAs in the mammalian inner ear.Hearing research · 2023Review
- Article
- The Genomics of Auditory Function and Disease.Annual review of genomics and human genetics · 2022Review
- Genetic etiology of non-syndromic hearing loss in Latin America.Human genetics · 2022Review
- The noncoding genome and hearing loss.Human genetics · 2022Review
- Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.Human genetics · 2022Article
- Gene alteration in zebrafish exposed to a mixture of substances of abuse.Environmental pollution (Barking, Essex : 1987) · 2021Article
- Cannabinoid Receptor Interacting Protein 1a (CRIP1a) in Health and Disease.Biomolecules · 2020Review
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Authors and funding
21 authors at 6 institutions in 3 countries.
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Abstract
Here we define a ~200 Kb genomic duplication in 2p14 as the genetic signature that segregates with postlingual progressive sensorineural autosomal dominant hearing loss (HL) in 20 affected individuals from the DFNA58 family, first reported in 2009. The duplication includes two entire genes, PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), in addition to four uncharacterized long non-coding (lnc) RNA genes and part of a novel protein-coding gene. Quantitative analysis of mRNA expression in blood samples revealed selective overexpression of CNRIP1 and of two lncRNA genes (LOC107985892 and LOC102724389) in all affected members tested, but not in unaffected ones. Qualitative analysis of mRNA expression identified also fusion transcripts involving parts of PPP3R1, CNRIP1 and an intergenic region between PLEK and CNRIP1, in the blood of all carriers of the duplication, but were heterogeneous in nature. By in situ hybridization and immunofluorescence, we showed that Cnrip1, Plek and Ppp3r1 genes are all expressed in the adult mouse cochlea including the spiral ganglion neurons, suggesting changes in expression levels of these genes in the hearing organ could underlie the DFNA58 form of deafness. Our study highlights the value of studying rare genomic events leading to HL, such as copy number variations. Further studies will be required to determine which of these genes, either coding proteins or non-coding RNAs, is or are responsible for DFNA58 HL.
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