Molecular Diagnosis of Deafness

This book 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.

Molecular Diagnosis of Deafness: Impact of Gene Identification. - Genetic Epidemiology of Deafness Genes and Clinical Applications. - Molecular auditory function. - Clinical Benefit of Molecular Diagnosis: Precision Medicine in Deafness. - Gap junction and channel transporter-related genes
. -
KCNQ4, GJB2, GJB6, KCNE1, KCNQ1, SLC26A4. - Stereocilia-related genes
CDH23, MYO7A, USH1C, PCDH15, USH1G, USH2A, ADGRV1, WHRN, CLRN1, MYO15A, MYO6, TMC1, STRC, ACTG1, DIAPH1, LOXHD1, PTPRQ, ESPN, MYO3A
. - Neurotransmission-related genes
OTOF, SLC17A8, PJVK
. - Transcription factor and related genes
EYA1, SIX1, PAX3, SOX10, MITF, SNAI2 CHD7, POU3F4, POU4F3, EYA4
. - Cell adhesion molecule and extracellular matrix-related genes
COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, TECTA, OTOA, OTOG, OTOGL, COL4A3, COL4A4, COL4A5
. - Uncategorized important deafness genes
WFS1, COCH
,
TMPRSS3, CRYM
,
NOG
, mitochondrial. - Cochlear Implantation from the perspective of the responsible gene. - Gene therapy and mechanism-based drugs: Toward more precise treatment based on molecular diagnosis.