Genetic contribution to progressive hearing loss in adults is underestimated. Established machine learning-based software could offer a rapid supportive tool to stratify patients with progressive hearing loss. A retrospective longitudinal analysis of 141 adult patients presenting with hearing loss was performed. Hearing threshold was measured at least twice 18 months or more apart. Based on the baseline audiogram, hearing thresholds and age were uploaded to AudioGene v4 (R) (Center for Bioinformatics and Computational Biology at The University of Iowa City, IA, USA) to predict the underlying genetic cause of hearing loss and the likely progression of hearing loss. The progression of hearing loss was validated by comparison with the most recent audiogram data of the patients. The most frequently predicted loci were DFNA2B, DFNA9 and DFNA2A. The frequency of loci/genes predicted by AudioGene remains consistent when using the initial or the final audiogram of the patients. In conclusion, machine learning-based software analysis of clinical data might be a useful tool to identify patients at risk for having autosomal dominant hearing loss. With this approach, patients with suspected progressive hearing loss could be subjected to close audiological follow-up, genetic testing and improved patient counselling.
机构:
Harvard Med Sch, Beth Israel Deaconess Med Ctr, Dept Anesthesia Crit Care & Pain Med, Boston, MA USAHarvard Med Sch, Beth Israel Deaconess Med Ctr, Dept Anesthesia Crit Care & Pain Med, Boston, MA USA
Young, Steven
Shapiro, Fred E.
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机构:
Harvard Med Sch, Beth Israel Deaconess Med Ctr, Dept Anesthesia Crit Care & Pain Med, Boston, MA USA
Harvard Med Sch, Brigham & Womens Hosp, Inst Safety Off Based Surg, Boston, MA USAHarvard Med Sch, Beth Israel Deaconess Med Ctr, Dept Anesthesia Crit Care & Pain Med, Boston, MA USA
Shapiro, Fred E.
Urman, Richard D.
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机构:
Harvard Med Sch, Brigham & Womens Hosp, Inst Safety Off Based Surg, Boston, MA USA
Harvard Med Sch, Brigham & Womens Hosp, Dept Anesthesiol Perioperat & Pain Med, Boston, MA USAHarvard Med Sch, Beth Israel Deaconess Med Ctr, Dept Anesthesia Crit Care & Pain Med, Boston, MA USA
机构:
SCPMG, Orange Cty Sinus Inst, Irvine, CA 92618 USASCPMG, Orange Cty Sinus Inst, Irvine, CA 92618 USA
Varshney, Rickul
Lee, Jivianne T.
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机构:
SCPMG, Orange Cty Sinus Inst, Irvine, CA 92618 USA
Univ Calif Los Angeles, David Geffen Sch Med, Dept Head & Neck Surg, Los Angeles, CA 90095 USASCPMG, Orange Cty Sinus Inst, Irvine, CA 92618 USA
Lee, Jivianne T.
CURRENT OPINION IN OTOLARYNGOLOGY & HEAD AND NECK SURGERY,
2016,
24
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: 3
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9
机构:
Jefferson Medical College, Philadelphia, PA, 19107, Suite 1112, College BuildingJefferson Medical College, Philadelphia, PA, 19107, Suite 1112, College Building
Shenot P.J.
Moy M.L.
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机构:
Department of Urology, University of Florida, Gainesville, FL, 32610-0247, 1600 SW Archer Road, N-211Jefferson Medical College, Philadelphia, PA, 19107, Suite 1112, College Building