Modern Otology and Neurotology

Molecular Diagnosis of Deafness

Authors: Usami, Shin-ichi

  • Describes the details of each gene responsible for hearing loss and also its clinical application
  • Provides information on genetic testing that leads to successful treatment, prevents hearing loss, and supports better genetic counseling
  • Includes an auditory performance review after cochlear implantation
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eBook $99.00
price for USA (gross)
  • Customers within the U.S. and Canada please contact Customer Service at 1-800-777-4643, Latin America please contact us at +1-212-460-1500 (Weekdays 8:30am – 5:30pm ET) to place your order.
  • Due: February 11, 2021
  • ISBN 978-4-431-54174-5
  • Digitally watermarked, DRM-free
  • Included format:
  • ebooks can be used on all reading devices
Hardcover $129.00
price for USA
  • Customers within the U.S. and Canada please contact Customer Service at 1-800-777-4643, Latin America please contact us at +1-212-460-1500 (Weekdays 8:30am – 5:30pm ET) to place your order.
  • Due: January 13, 2021
  • ISBN 978-4-431-54173-8
  • Free shipping for individuals worldwide
About this book

​Genetic disorders are a common cause of congenital/early-onset sensorineural hearing loss. The identification of genes that are responsible for hearing loss is a breakthrough approach and has advanced our knowledge of the biology of hearing. Despite advances in the discovery of deafness genes, clinical application still presents problems because of the genetic heterogeneity of deafness. Genetic testing has become more important for highly accurate diagnosis, predicting the severity of hearing loss and associated abnormalities, selecting appropriate treatment options, preventing hearing loss, and better genetic counseling. In this book, the genes responsible for hearing loss will be reviewed, and a diagnostic strategy for mutation screening using a mutation/gene database based on the mutation spectrum of a corresponding population will be discussed. The simultaneous examination of the multiple deafness mutations by means of Invader assay followed by direct sequencing will enable us to detect deafness mutations in an efficient and practical manner for clinical use. We will discuss the genetic background of the pre-lingual as well as post-lingual deafness patients with cochlear implantation. Furthermore, auditory performance after cochlear implantation will be reviewed in the patients who underwent genetic evaluation. In addition to the above-mentioned factors, future screening for deafness genes will also be discussed in connection with the fact that many patients want to know their etiology, the most effective treatment, and helpful counseling about recurrence rates. Genetic counseling is important for the patients and their families to understand the heredity of hearing. Genetic counseling-based approaches are an important issue and when to perform genetic counseling will be discussed.   A new era is now approaching in which ENT clinicians will be able to access genetic testing.  This book, focusing on clinical application of genetic testing for deafness patients, will greatly benefit not only ENT clinicians including residents, but also geneticists and genetic counselors for clinical use.  

About the authors

Shin-ichi Usami, M.D., Ph.D. Professor and Chairman Department of Otorhinolaryngology Shinshu University School of Medicine 3-1-1 Asahi, Matsumoto 390-8621 Japan Tel: +81-263-37-2666 Fax: +81-263-36-9164 E-Mail: usami@shinshu-u.ac.jp

Buy this book

eBook $99.00
price for USA (gross)
  • Customers within the U.S. and Canada please contact Customer Service at 1-800-777-4643, Latin America please contact us at +1-212-460-1500 (Weekdays 8:30am – 5:30pm ET) to place your order.
  • Due: February 11, 2021
  • ISBN 978-4-431-54174-5
  • Digitally watermarked, DRM-free
  • Included format:
  • ebooks can be used on all reading devices
Hardcover $129.00
price for USA
  • Customers within the U.S. and Canada please contact Customer Service at 1-800-777-4643, Latin America please contact us at +1-212-460-1500 (Weekdays 8:30am – 5:30pm ET) to place your order.
  • Due: January 13, 2021
  • ISBN 978-4-431-54173-8
  • Free shipping for individuals worldwide

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Bibliographic Information

Bibliographic Information
Book Title
Molecular Diagnosis of Deafness
Authors
Series Title
Modern Otology and Neurotology
Series Volume
2
Copyright
2021
Publisher
Springer Japan
Copyright Holder
Springer Japan
eBook ISBN
978-4-431-54174-5
Hardcover ISBN
978-4-431-54173-8
Edition Number
1
Number of Illustrations and Tables
40 b/w illustrations, 10 illustrations in colour
Topics