From the Journals: Targeted Genetic Testing Unmasks Unexplained Hearing Loss Genetic testing for a certain mutation in pediatric patients is valuable in determining a cause for unexplained hearing loss, according to a study in Otolaryngology–Head and Neck Surgery (November 2012). According to the study's authors, targeted ... From the Journals
From the Journals  |   January 01, 2013
From the Journals: Targeted Genetic Testing Unmasks Unexplained Hearing Loss
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Hearing Disorders / Special Populations / Genetic & Congenital Disorders / From the Journals
From the Journals   |   January 01, 2013
From the Journals: Targeted Genetic Testing Unmasks Unexplained Hearing Loss
The ASHA Leader, January 2013, Vol. 18, 33. doi:10.1044/leader.FTJ7.18012013.33
The ASHA Leader, January 2013, Vol. 18, 33. doi:10.1044/leader.FTJ7.18012013.33
Genetic testing for a certain mutation in pediatric patients is valuable in determining a cause for unexplained hearing loss, according to a study in Otolaryngology–Head and Neck Surgery (November 2012). According to the study's authors, targeted testing for some of the most common mutations that cause sensorineural hearing loss yields the best results, rather than generalized screening of hearing loss patients.
University of Miami researchers conducted a nine-year study on 221 adult and 163 pediatric patients with sensorineural hearing loss. They screened blood samples for mutations in GJB2, GJB6 and mitochondrial DNA mutations, conducted audiometric tests, and took patient and family histories.
Researchers identified mutations in the GJB2/GJB6 genes in 23 of 163 pediatric patients, but only 3 of 221 adults. Researchers determined that 13 percent of the pediatric patients carried the mutation. The mitochondrial testing in adults returned a higher rate (three percent) than what is usually reported (one percent). Identifying DFNB1 mutations early will provide carriers with a number of options, including risk factor avoidance and pharmaceutical options to prevent hearing loss from progressing, or to improve existing conditions. Search doi: 10.1177/0194599812453553.
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January 2013
Volume 18, Issue 1