Shin-Ichi Usami

Molecular Diagnosis of Deafness (eBook, PDF)

• Format: PDF

Produktbeschreibung

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.

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Produktdetails

• Verlag: Springer Nature Singapore
• Seitenzahl: 329
• Erscheinungstermin: 4. Dezember 2025
• Englisch
• ISBN-13: 9789819542314
• Artikelnr.: 76042397

Autorenporträt

Shin-ichi Usami, M.D., Ph.D.

Professor Department of Hearing Implant Sciences

Shinshu University School of Medicine

3-1-1 Asahi, Matsumoto, Nagano 390-8621 Japan

Inhaltsangabe

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.