title: Advances in genetic hearing loss: CIB2 gene.
abstract: Hearing plays a crucial role in human development. Receiving and processing sounds are essential for the advancement of the speech ability during the early childhood and for a proper functioning in the society. Hearing loss is one of the most frequent disabilities that affect human senses. It can be caused by genetic or environmental factors or both of them. Calcium- and integrin-binding protein 2 (CIB2) is one of the recently identified genes, involved in HI pathogenesis. CIB2 is widely expressed in various human and animal tissues, mainly in skeletal muscle, nervous tissue, inner ear, and retina. The CIB2 protein is responsible for maintaining Ca2+homeostasis in cells and interacting with integrins-transmembrane receptors essential for cell adhesion, migration, and activation of signaling pathways. Calcium signaling pathway is crucial for signal transduction in the inner ear, and integrins regulate hair cell differentiation and maturation of the stereocilia. To date, mutations detected in CIB2 are causative for nonsyndromic hearing loss (DFNB48) or Usher syndrome type 1 J. Patients harboring biallelic CIB2 mutations suffer from bilateral, early onset, moderate to profound HI. In the paper, we summarize the current status of the research on CIB2.
authors: Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.|Postgraduate School of Molecular Medicine, Warsaw, Poland.
authors: Agnieszka
authors: A
authors: Jacoszek
authors: Department of Genetics, Institute of Physiology and Pathology of Hearing, Mokra 17, Nadarzyn, Warsaw/Kajetany, 05-830, Poland. a.pollak@ifps.org.pl.
authors: Agnieszka
authors: http://orcid.org/0000-0002-2847-1782
authors: A
authors: Pollak
authors: Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
authors: Rafał
authors: R
authors: Płoski
authors: Department of Genetics, Institute of Physiology and Pathology of Hearing, Mokra 17, Nadarzyn, Warsaw/Kajetany, 05-830, Poland.
authors: Monika
authors: M
authors: Ołdak
mesh_terms: D000818:Animals; D002118:Calcium / Q000378:metabolism; D002135:Calcium-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D007758:Ear, Inner / Q000473:pathology; D034381:Hearing Loss / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D009154:Mutation; D015398:Signal Transduction; D052245:Usher Syndromes / Q000235:genetics
chemical_list: C577150:CIB2 protein, human; D002135:Calcium-Binding Proteins; D002118:Calcium
keywords: CIB2; Calcium; DFNB48; Hearing loss; Integrin; Nonsyndromic; Usher syndrome