Molecular Diagnosis of Deafness

Genetic disorders are a common cause of congenital/early-onset sensorineural hearing loss, and the identification of genes responsible for hearing loss has advanced our knowledge of the biology of hearing. 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. This book will review the genes responsible for hearing loss and discuss a diagnostic strategy for mutation screening using a mutation/gene database based on the mutation spectrum of a corresponding population. It will also discuss the genetic background of pre-lingual and post-lingual deafness patients with cochlear implantation and auditory performance after cochlear implantation. Genetic counseling is important for the patients and their families to understand the heredity of hearing, and genetic counseling-based approaches are an important issue. ENT clinicians will be able to access genetic testing, and this book will benefit ENT clinicians, geneticists, and genetic counselors for clinical use.

Format: Hardback
Publication date: 10 September 2022
Publisher: Springer Verlag, Japan

Genetic disorders are a prevalent factor contributing to congenital or early-onset sensorineural hearing loss. The identification of genes responsible for hearing loss has been a groundbreaking advancement in our understanding of the biology of hearing. While significant progress has been made in discovering deafness genes, the clinical application of these findings remains challenging due to the genetic heterogeneity of deafness. Genetic testing has become increasingly crucial for achieving highly accurate diagnoses, predicting the severity of hearing loss and associated abnormalities, selecting appropriate treatment options, preventing hearing loss, and providing better genetic counseling.

In this book, we will delve into the genes responsible for hearing loss, exploring a diagnostic strategy for mutation screening utilizing a mutation/gene database based on the mutation spectrum of a corresponding population. The simultaneous examination of multiple deafness mutations through the Invader assay followed by direct sequencing will enable us to detect deafness mutations efficiently and practically for clinical use. We will also discuss the genetic backgrounds of pre-lingual and post-lingual deafness patients who have undergone cochlear implantation. Furthermore, we will review auditory performance outcomes in patients who have undergone genetic evaluation.

In addition to the aforementioned factors, we will explore future screening for deafness genes in conjunction with the growing demand among patients for knowledge about their etiology, the most effective treatment options, and helpful counseling regarding recurrence rates. Genetic counseling is of paramount importance for patients and their families to understand the inheritance of hearing. Genetic counseling-based approaches are a significant concern, and determining when to perform genetic counseling is crucial.

In conclusion, genetic disorders play a significant role in the development of congenital or early-onset sensorineural hearing loss. The identification of deafness genes has revolutionized our knowledge of hearing biology, but clinical application still faces challenges due to genetic heterogeneity. Genetic testing has become indispensable for accurate diagnoses, predicting hearing loss severity, selecting appropriate treatment options, preventing hearing loss, and providing better genetic counseling. This book aims to review the genes responsible for hearing loss, discuss diagnostic strategies, and explore the genetic backgrounds of patients with cochlear implantation. Additionally, it will review auditory performance outcomes in patients who have undergone genetic evaluation and discuss future screening for deafness genes in conjunction with patient demands for knowledge and genetic counseling.

Dimension: 235 x 155 (mm)
ISBN-13: 9784431541738
Edition number: 1st ed. 2023