Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

doi:10.1038/ng.2426

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Article

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

Nature genetics - 1 Nov 2012

Riazuddin Saima, Belyantseva Inna A, Giese Arnaud P J, Lee Kwanghyuk, Indzhykulian Artur A, Nandamuri Sri Pratima, Yousaf Rizwan, Sinha Ghanshyam P, Lee Sue, Terrell David, Hegde Rashmi S, Ali Rana A, Anwar Saima, Andrade-Elizondo Paula B, Sirmaci Asli, Parise Leslie V, Basit Sulman, Wali Abdul, Ayub Muhammad, Ansar Muhammad, Ahmad Wasim, Khan Shaheen N, Akram Javed, Tekin Mustafa, Riazuddin Sheikh, Cook Tiffany, Buschbeck Elke K, Frolenkov Gregory I, Leal Suzanne M, Friedman Thomas B, Ahmed Zubair M

Abstract excerpt

Sensorineural hearing loss is genetically heterogeneous. Here, we report that mutations in CIB2, which encodes a calcium- and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J). One mutation in CIB2 is a prevalent cause of deafness DFNB48 in Pakistan; other CIB2 mutations contribute to deafness elsewhere in the world. In mice, CIB2 is localized to the...

Topics

Animals
COS Cells
Calcium-Binding Proteins
Chlorocebus aethiops
Drosophila melanogaster
Genetic Linkage
Hair Cells, Vestibular

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hearing Loss, Sensorineural

Humans

Mice

Mutation

Pedigree

Protein Conformation

Structure-Activity Relationship

Usher Syndromes

Zebrafish

Source

Open in PubMed Open full text

Identifiers

PMID: 23023331
DOI: 10.1038/ng.2426
PMCID: PMC3501259

Genes

CIB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.PMID 23023331Read ↗

Advances in genetic hearing loss: CIB2 gene.Semantic proximity Read ↗

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.Semantic proximity Read ↗

The Diverse Functions of the Calcium- and Integrin-Binding Protein FamilySemantic proximity Read ↗

CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.Semantic proximity Read ↗

Variants in CIB2 cause DFNB48 and not USH1J.Semantic proximity Read ↗

Function and expression pattern of nonsyndromic deafness genes.Semantic proximity Read ↗

CIB2 as a Ca <sup>2+</sup> Sensor for Auditory Mechano-Electrical Transduction and Linked to Genetic-Heterogeneity of <i>TMC1</i> in Hearing LossSemantic proximity Read ↗

A new Atp2b2 deafwaddler allele, dfw(i5), interacts strongly with Cdh23 and other auditory modifiers.Semantic proximity Read ↗

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CIB2 function is distinct from Whirlin in the development of cochlear stereocilia staircase patternSemantic proximity Read ↗

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.Semantic proximity Read ↗

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