Molecular Diagnosis of Deafness (Modern Otology and Neurotology)

Table of contents

• Molecular Diagnosis of Deafness: Impact of Gene Identification
  Shin-ichi Usami — Pages 1-21
• Genetic Epidemiology of Deafness Genes
  Shin-ichi Usami — Pages 23-34
• Molecular Auditory Function and Gene Expression
  Shin-ichi Usami — Pages 35-58
• Clinical Benefits of Molecular Diagnosis: Precision Medicine in Deafness
  Shin-ichi Usami — Pages 59-69
• Gap Junction and Channel Transporter-Related Genes (KCNQ4, GJB2, GJB6, KCNQ1, KCNE1, SLC26A4)
  Shin-ichi Usami — Pages 71-106
• Stereocilia-Related Genes (CDH23, MYO7A, USH1C, PCDH15, USH1G, USH2A, ADGRV1, WHRN, CLRN1, MYO15A, MYO6, TMC1, STRC, ACTG1, DIAPH1, LOXHD1, PTPRQ, ESPN, MYO3A)
  Shin-ichi Usami — Pages 107-176
• Neurotransmission-Related Genes (OTOF, SLC17A8, PJVK)
  Shin-ichi Usami — Pages 177-188
• Transcription Factor and Related Genes (EYA1, SIX1, PAX3, SOX10, MITF, SNAI2, CHD7, POU3F4, POU4F3, EYA4)
  Shin-ichi Usami — Pages 189-217
• Cell Adhesion Molecule and Extracellular Matrix-Related Genes (COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, TECTA, OTOA, OTOG, OTOGL, COL4A3, COL4A4, COL4A5)
  Shin-ichi Usami — Pages 219-235
• Ubiquitously Expressed Genes in the Inner Ear (WFS1, COCH, TMPRSS3, GSDME, CRYM, and Mitochondrial Genes)
  Shin-ichi Usami — Pages 237-266
• Cochlear Implantation from the Perspective of the Responsible Gene
  Shin-ichi Usami — Pages 267-273
• Gene Therapy and Mechanism-Based Drugs: Toward More Precise Treatment Based on Molecular Diagnosis
  Shin-ichi Usami — Pages 275-282
• A Comprehensive Catalogue of Deafness Genes
  Shin-ichi Usami — Pages 283-329

Description

Molecular Diagnosis of Deafness sheds new light on the molecular diagnosis of deafness, emphasizing the impact of gene identification and its clinical application. Through this comprehensive volume, readers will gain insights into the genetic underpinnings of hearing loss and the latest advancements in genetic testing and counseling.

The chapters cover topics such as the genetic epidemiology of deafness genes, non-syndromic and syndromic hearing loss, and the role of genetic testing in cochlear implantation. The author delves into specific genes like GJB2, SLC26A4, and MYO7A, providing a detailed analysis of their clinical implications. This book also explores future directions in genetic screening, making it an indispensable resource for understanding the complexities of genetic hearing loss.

Molecular Diagnosis of Deafness is essential for ENT clinicians, geneticists, and genetic counselors seeking to enhance their knowledge of deafness genes and their clinical applications. It offers a practical guide to navigating the challenges of genetic heterogeneity in hearing loss and provides valuable insights for improving patient care through advanced genetic testing and counseling.

Intended Audience

• ENT clinicians
• Medical geneticists
• Genetic counselors
• Researchers in auditory genetics
• Clinicians involved in cochlear implantation programs