Article
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
American journal of human genetics - 1 Sept 2009
Grillet Nicolas, Schwander Martin, Hildebrand Michael S, Sczaniecka Anna, Kolatkar Anand, Velasco Janice, Webster Jennifer A, Kahrizi Kimia, Najmabadi Hossein, Kimberling William J, Stephan Dietrich, Bahlo Melanie, Wiltshire Tim, Tarantino Lisa M, Kuhn Peter, Smith Richard J H, Müller Ulrich
Abstract excerpt
Hearing loss is the most common form of sensory impairment in humans and is frequently progressive in nature. Here we link a previously uncharacterized gene to hearing impairment in mice and humans. We show that hearing loss in the ethylnitrosourea (ENU)-induced samba mouse line is caused by a mutation in Loxhd1. LOXHD1 consists entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains and is expressed along...
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