UM Researchers Identify New Gene Associated with Moderate Hearing Loss

Miller School researchers collaborated with an international team to identify a new gene associated with the most common form of inherited childhood deafness. Published November 1 in the American Journal of Human Genetics, the study led by Mustafa Tekin, M.D., associate professor in the Dr. John T. Macdonald Department of Human Genetics and the John P. Hussman Institute for Human Genomics, found that mutations in the OTOGL gene are a cause of moderate autosomal recessive non-syndromic hearing loss.

Researchers have previously shown that mutations in 40 genes cause autosomal recessive non-syndromic hearing loss, which is usually severe or profound, but varying degrees of residual hearing have been observed in some families. Genes that cause less severe hearing loss have not been well defined in the past.

In the study, “Mutations in OTOGL, encoding the inner ear protein Otogelin-like, cause moderate sensorineural hearing loss,” the researchers used whole exome sequencing to examine the genomic region of a gene previously linked to hearing loss and found the mutation in OTOGL. They demonstrated that OTOGL was expressed in the inner ears of humans, mice, rats, and zebrafish, and researchers from the UM Department of Biology found that disrupting OTOGL in zebrafish led to sensorineural hearing loss.

“This discovery is a result of our outstanding multidisciplinary work at UM with contributions from national and international collaborators,” Tekin said. “It revealed a novel component of the acellular membranes of the inner ear that causes moderate hearing loss when disrupted.”

Kemal O. Yariz, Ph.D., a postdoctoral associate for the Institute and the department, was the first author of the study. Other co-authors from the University are Oscar Diaz-Horta, Ph.D., postdoctoral associate; Juan I. Young, Ph.D., assistant professor of human genomics; Susan Blanton, Ph.D., associate professor of human genetics; Xue Zhong Liu, M.D., Ph.D., associate professor of otolaryngology; Julia Dallman, Ph.D., assistant professor of biology; Zhongmin Lu, Ph.D., associate professor of biology; and Isaac Skromne, Ph.D., assistant professor of biology.

Researchers from the Massachusetts Eye and Ear Infirmary at Harvard Medical School, as well as international collaborators in Turkey, the Netherlands, China and Palestine, also contributed to the study.

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