Dataset Information

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

ABSTRACT: 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 mechanosensory stereocilia of inner ear hair cells and to retinal photoreceptor and pigmented epithelium cells. Consistent with molecular modeling predictions of calcium binding, CIB2 significantly decreased the ATP-induced calcium responses in heterologous cells, whereas mutations in deafness DFNB48 altered CIB2 effects on calcium responses. Furthermore, in zebrafish and Drosophila melanogaster, CIB2 is essential for the function and proper development of hair cells and retinal photoreceptor cells. We also show that CIB2 is a new member of the vertebrate Usher interactome.

SUBMITTER: Riazuddin S

PROVIDER: S-EPMC3501259 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

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

Riazuddin Saima S Belyantseva Inna A IA Giese Arnaud P J AP Lee Kwanghyuk K Indzhykulian Artur A AA Nandamuri Sri Pratima SP Yousaf Rizwan R Sinha Ghanshyam P GP Lee Sue S Terrell David D Hegde Rashmi S RS Ali Rana A RA Anwar Saima S Andrade-Elizondo Paula B PB Sirmaci Asli A Parise Leslie V LV Basit Sulman S Wali Abdul A Ayub Muhammad M Ansar Muhammad M Ahmad Wasim W Khan Shaheen N SN Akram Javed J Tekin Mustafa M Riazuddin Sheikh S Cook Tiffany T Buschbeck Elke K EK Frolenkov Gregory I GI Leal Suzanne M SM Friedman Thomas B TB Ahmed Zubair M ZM

Nature genetics 20120930 11

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 mechanosensory stereocilia of inner ear hair cells and to retinal photoreceptor and p ...[more]

PMID: 23023331

Dataset Information

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

Publications

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

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets

Similar Datasets

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.
| S-EPMC4929876 | biostudies-literature

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
| S-EPMC2716558 | biostudies-literature

Preferential Binding of Mg<sup>2+</sup> Over Ca<sup>2+</sup> to CIB2 Triggers an Allosteric Switch Impaired in Usher Syndrome Type 1J.
| S-EPMC6107761 | biostudies-literature

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
| S-EPMC379159 | biostudies-literature

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
| S-EPMC2725234 | biostudies-literature

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
| S-EPMC4373692 | biostudies-literature

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
| S-EPMC1234923 | biostudies-literature

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
| S-EPMC2986256 | biostudies-literature

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
| S-EPMC3882911 | biostudies-literature

Oligomeric state, hydrodynamic properties and target recognition of human Calcium and Integrin Binding protein 2 (CIB2).
| S-EPMC6803640 | biostudies-literature