A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment

Schrauwen, Isabelle. and Helfmann, Sarah. and Inagaki, Akira. and Predoehl, Friederike. and Tabatabaiefar, Mohammad Amin. and Magdalena Picher, Maria. and Sommen, Manou. and Seco, Celia Zazo and Oostrik, Jaap. and Kremer, Hannie. and Dheedene, Annelies. and Claes, Charlotte. and Fransen, Erik. and Hashemzadeh Chaleshtori, Morteza. and Coucke, Paul. and Lee, Amy. and Moser, Tobias. and Van Camp, Guy. (2012) A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment. AMERICAN JOURNAL OF HUMAN GENETICS, 91 (4). pp. 636-645.

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CaBPs are a family of Ca2+-binding proteins related to calmodulin and are localized in the brain and sensory organs, including the retina and cochlea. Although their physiological roles are not yet fully elucidated, CaBPs modulate Ca2+ signaling through effectors such as voltage-gated Ca-v Ca2+ channels. In this study, we identified a splice-site mutation (c.637+1G>T) in Ca2+-binding protein 2 (CABP2) in three consanguineous Iranian families affected by moderate-to-severe hearing loss. This mutation, most likely a founder mutation, probably leads to skipping of exon 6 and premature truncation of the protein (p.Phe164Serfs(star)4). Compared with wild-type CaBP2, the truncated CaBP2 showed altered Ca2+ binding in isothermal titration calorimetry and less potent regulation of Ca(v)1.3 Ca2+ channels. We show that genetic defects in CABP2 cause moderate-to-severe sensorineural hearing impairment. The mutation might cause a hypofunctional CaBP2 defective in Ca2+ sensing and effector regulation in the inner ear.

Item Type: Article
Subjects: QU Biochemistry > Cell biology and genetics
WV Otolaryngology
Divisions: Reserach Vice-Chancellar Department > Cellular and Molecular Research Center
Depositing User: Users 1 not found.
Date Deposited: 14 Aug 2017 03:45
Last Modified: 11 Mar 2018 06:56
URI: http://eprints.skums.ac.ir/id/eprint/2866

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