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Genetic Hearing Loss

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Alone or in combination with environmental factors, heredity is at the root of most cases of hearing impairment. Thanks in large part to positional cloning techniques, scientists have identified nearly 100 genes and loci implicated in hearing loss since 1995—an extraordinarily rapid rate of gene mapping success. Genetic Hearing Loss branches into syndromic and nonsyndromic categorical directions as a comprehensive report on this accumulated wealth of genetic discoveries.

Author(s): Patrick J. Willems
Edition: 1
Publisher: Marcel Dekker
Year: 2004

Language: English
Pages: 500
City: New York

Genetic Hearing Loss......Page 1
Title......Page 2
Copyright......Page 3
Preface......Page 4
Contents......Page 6
Contributors......Page 10
1.Normal Development of the Ear in the Human and Mouse......Page 18
A. Development of the External Ear......Page 20
B. Development of the Middle Ear......Page 22
C. Development of the Inner Ear......Page 25
ACKNOWLEDGMENTS / REFERENCES......Page 41
2.Audiometric Tests and Diagnostic Workup......Page 50
3.Classification and Epidemiology......Page 66
4.Usher Syndrome......Page 82
5.Pendred Syndrome......Page 92
6.Waardenburg Syndrome......Page 114
7.Jervell and Lange-Nielsen Syndrome......Page 134
8.HDR Syndrome......Page 150
9.Branchio-oto-renal Syndrome......Page 156
10.Treacher Collins Syndrome......Page 170
11.MYH9......Page 184
12.Mitochondrial Hearing Loss......Page 196
13.Gene Localization and Isolation in Nonsyndromic Hearing Loss......Page 216
14.Connexins......Page 224
15.Myosin VI......Page 240
16.K+-Channel Gene KCNQ4......Page 256
17.COL11A2......Page 274
18.POU-Domain Transcription Factors......Page 286
19.a-Tectorin......Page 308
20.EYA4......Page 324
21.DFNA5......Page 338
22.COCH......Page 346
23.Diaphanous......Page 368
24.Claudin 14......Page 390
25.CDH23......Page 408
26.TMPRSS3......Page 420
27.Otosclerosis......Page 436
28.Mechanisms that Regulate Hair Cell Differentiation and Regeneration......Page 446
29.Genetic Testing: Possibilities and Attitudes......Page 472
Index......Page 488