Researchers at the John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine have found that inherited mutations in the MINAR2 gene caused deafness in four families. The gene variation mostly affects the inner ear hair cells, which are critical to hearing. The authors believe the progressive nature of this hearing loss, in some affected individuals and in mice, could offer opportunities for treatment. The study titled “Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice” was published online on June 21 in the journal PNAS.
Dysfunctional gene discovery leads to potentially treatable hearing loss
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