ArticlePloS one2015
A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 75 citations in OpenAlex.
- Sperm RNA landscape during sexual maturation in Duroc boars.BMC genomics · 2026Article
- Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.Nature genetics · 2025Article
- The Diverse Functions of the Calcium- and Integrin-Binding Protein Family.International journal of molecular sciences · 2025Review
- Structural insights into calcium-dependent CIB2-TMC1 interaction in hair cell mechanotransduction.Communications biology · 2025Article
- The applications of CRISPR/Cas-mediated genome editing in genetic hearing loss.Cell & bioscience · 2023Review
- Mechanotransduction in mammalian sensory hair cells.Molecular and cellular neurosciences · 2022Review
- The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.Human genetics · 2022Review
- Calcium- and Integrin-Binding Protein 2 (CIB2) in Physiology and Disease: Bright and Dark Sides.International journal of molecular sciences · 2022Review
- Article
- Atypical and ultra-rare Usher syndrome: a review.Ophthalmic genetics · 2020Review
- CRISPR/Cas9: targeted genome editing for the treatment of hereditary hearing loss.Journal of applied genetics · 2020Review
- Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.Frontiers in genetics · 2020Review
- Oligomeric state, hydrodynamic properties and target recognition of human Calcium and Integrin Binding protein 2 (CIB2).Scientific reports · 2019Article
- Evolutionary-Conserved Allosteric Properties of Three Neuronal Calcium Sensor Proteins.Frontiers in molecular neuroscience · 2019Article
- Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.Human mutation · 2019Article
- Variants in CIB2 cause DFNB48 and not USH1J.Clinical genetics · 2018Article
- Review
- Preferential Binding of MgFrontiers in molecular neuroscience · 2018Article
- CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.EMBO molecular medicine · 2017Article
- CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.Nature communications · 2017Article
Corrections and comments
- Erratum issuedCorrection: A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.2015 · Hegde, Rashima S [corrected to Hegde, Rashmi S]
Authors and funding
12 authors at 5 institutions in 1 country.
Funding
Abstract
Hearing loss is a complex disorder caused by both genetic and environmental factors. Previously, mutations in CIB2 have been identified as a common cause of genetic hearing loss in Pakistani and Turkish populations. Here we report a novel (c.556C>T; p.(Arg186Trp)) transition mutation in the CIB2 gene identified through whole exome sequencing (WES) in a Caribbean Hispanic family with non-syndromic hearing loss. CIB2 belongs to the family of calcium-and integrin-binding (CIB) proteins. The carboxy-termini of CIB proteins are associated with calcium binding and intracellular signaling. The p.(Arg186Trp) mutation is localized within predicted type II PDZ binding ligand at the carboxy terminus. Our ex vivo studies revealed that the mutation did not alter the interactions of CIB2 with Whirlin, nor its targeting to the tips of hair cell stereocilia. However, we found that the mutation disrupts inhibition of ATP-induced Ca2+ responses by CIB2 in a heterologous expression system. Our findings support p.(Arg186Trp) mutation as a cause for hearing loss in this Hispanic family. In addition, it further highlights the necessity of the calcium binding property of CIB2 for normal hearing.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.