Abstract
Objective: 1) Perform genetic screening on newborns that fail physiologic hearing screening and determine confirmed positives with hearing loss and false-positives. 2) Compare physiological screening results to genetic screening results and identify deafness genes. 3) Provide additional data to assist with the development and implementation of a universal protocol.
Method: Prospective, large-scale, multi-institution project examining genetic causes of hearing loss in newborn children at a tertiary-care academic center and private hospital that has the largest number of births in the country. The primary outcome measure is deafness genes. Data collection began January 2012 and is ongoing.
Results: Our hypothesis is that a majority of newborns confirmed to have hearing impairment based on physiological tests would have identifiable genetic mutations in the currently known 84 deafness genes. This genetic assay technology for identifying genetic abnormalities was tested in patients with known bilateral sensorineural hearing impairment and identified a genetic cause of hearing loss in 26 of 32 (81.3%) patients with usable specimens that were tested. The 2 most commonly identified genetic mutations identified were the SLC26A4 gene, known to encode the pendrin protein, followed by the GJB2 gene, responsible for gap-junction protein Connexin 26.
Conclusion: This DNA-based genetic hearing screening approach has allowed us to identify genes that are responsible for deafness and may be able to identify children at risk for developing delayed-onset hearing loss that current screening methods miss. It may have widespread applications in clinical practices beyond hearing screening.
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