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Medicine - Neurology | Molecular Diagnosis of Deafness

Molecular Diagnosis of Deafness

Usami, Shin-ichi

2015, Approx. 150 p. 50 illus., 10 illus. in color.

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  • 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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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 also 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.

Content Level » Professional/practitioner

Keywords » Cochlear implantation - Deafness genes - Genetic counseling - Genetic testing - Hearing loss

Related subjects » Human Genetics - Molecular Medicine - Neurology - Otorhinolaryngology

Table of contents 

​.- Chapter 1: Molecular Diagnosis of Deafness: Impact of Gene Identification. ​.- Chapter 2: Genetic Epidemiology of Deafness Genes and Clinical Application:Comparison with the mutation spectrum and screening strategy. ​.- Chapter 3: Clinical Application. 3.1. Non-syndromic Hearing Loss. 3.1.1 GJB2 3.1.2 SLC26A4  3.1.2 Mitochondria 1555 3.1.3 Mitochondria 3243 3.1.4 CDH23 3.1.5 TECTA 3.1.6 KCNQ43.2. Syndromic Hearing Loss. 3.2.1 BOR Syndrome (EYA1) 3.2.2 Usher Syndrome (MYO7A, CDH23, PCDH15, USH2A, etc) 3.2.3 Pendred Syndrome (SLC26A4) 3.2.4 SYM1, SYNS1 (NOG) ​.- Chapter 4: Genetic Testing and Cochlear Implantation. ​.- Chapter 5: Genetic Counseling. ​.- Chapter 6: Future Direction.  

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