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

Nature genetics | Nov 29, 2012

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.

Pubmed ID: 23023331 RIS Download

Mesh terms: Animals | COS Cells | Calcium-Binding Proteins | Cercopithecus aethiops | Drosophila melanogaster | Genetic Linkage | Hair Cells, Vestibular | Hearing Loss, Sensorineural | Humans | Mice | Mutation | Pedigree | Protein Conformation | Structure-Activity Relationship | Usher Syndromes | Zebrafish

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Associated grants

  • Agency: NIDCD NIH HHS, Id: R01 DC009645
  • Agency: NIDCD NIH HHS, Id: DC011651
  • Agency: NHLBI NIH HHS, Id: R01 HL092544
  • Agency: NHGRI NIH HHS, Id: N01HG65403
  • Agency: NIDCD NIH HHS, Id: R01 DC011651
  • Agency: NIDCD NIH HHS, Id: R01 DC008861
  • Agency: NIDCD NIH HHS, Id: R01 DC012564
  • Agency: NIDCD NIH HHS, Id: R01 DC011748
  • Agency: NIDCD NIH HHS, Id: Z01 DC000039
  • Agency: NIDCD NIH HHS, Id: R01 DC003594
  • Agency: NIDCD NIH HHS, Id: T32 DC000039
  • Agency: NIDCD NIH HHS, Id: R00 DC009287
  • Agency: NIDCD NIH HHS, Id: R01 DC03594
  • Agency: NIDCD NIH HHS, Id: DC000039-15
  • Agency: NEI NIH HHS, Id: R01 EY014648
  • Agency: Intramural NIH HHS, Id: Z01 DC000039-12
  • Agency: NIDCD NIH HHS, Id: R01 DC011803

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NHLBI Exome Sequencing Project (ESP)

The goal of the project is to discover novel genes and mechanisms contributing to heart, lung and blood disorders by pioneering the application of next-generation sequencing of the protein coding regions of the human genome across diverse, richly-phenotyped populations and to share these datasets and findings with the scientific community to extend and enrich the diagnosis, management and treatment of heart, lung and blood disorders. The groups participating and collaborating in the NHLBI GO ESP include: Seattle GO - University of Washington, Seattle, WA Broad GO - Broad Institute of MIT and Harvard, Cambridge, MA WHISP GO - Ohio State University Medical Center, Columbus, OH Lung GO - University of Washington, Seattle, WA WashU GO - Washington University, St. Louis, MO Heart GO - University of Virginia Health System, Charlottesville, VA ChargeS GO - University of Texas Health Sciences Center at Houston

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