Учебники / Genetic Hearing Loss Willems 2004

GENETIC

HEARINGLoss

EDITED BY

PATRICKJ. WILLEMS

GENDIA

Antwerp, Belgium

M A R C E L

MARCELDEKKER,INC.

NEWYORK RASEL

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Preface

Lend me your ears

Shakespeare, Julius Caesar

Hearing loss, a ecting millions of people, is the most common form of sensory impairment. In most cases it is due to an unfavorable interaction between genetic and environmental factors. Whereas environmental factors such as exposure to noise, infection, trauma and ototoxic drugs have been recognized for years, the genetic factors contributing to hearing loss have long remained unknown. Although molecular biology formed the cutting edge in most medical disciplines, until recently the ear remained a black box filled only with sounds of silence. It was not until 1995 that the first nuclear gene responsible for nonsyndromic hearing loss was isolated. Since then, however, the pace of research has been unprecedented, and more than 60 loci and 25 genes have been implicated in hearing loss over the last decade.

This book is one of the first to describe the molecular genetics of hearing loss. It presents the first crop of genes, which is the harvest of an international e ort to identify all the key players in hearing loss using the tremendous power of positional cloning.

As only a limited number of an estimated total of 100 genes implicated in hearing loss had been identified at the time this book was written, we are looking at only the tip of the iceberg. Consequently, the real understanding of the biology and pathology of the auditory system will require the identifica-

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Preface

tion of many more genes, with the elucidation of their function being the major challenge.

For the time being, lend me your ears to listen to those who are cracking the auditory genetic code.

Patrick J. Willems

Contents

Preface		iii
Contributors		ix
	Hearing and Hearing Loss
1.	Normal Development of the Ear in the Human and Mouse	1
	Lina M. Mullen, Yan Li, and Allen F. Ryan
2.	Audiometric Tests and Diagnostic Workup	33
	Paul J. Govaerts
3.	Classification and Epidemiology	49
	Alessandro Martini and Patrizia Trevisi
	Syndromic Hearing Loss
4.	Usher Syndrome	65
	William J. Kimberling
5.	Pendred Syndrome	75
	Shannon P. Pryor, Hong-Joon Park, Anne C. Madeo,
	John A. Butman, and Andrew J. Gri th
6.	Waardenburg Syndrome	97
	Andrew P. Read
7.	Jervell and Lange-Nielsen Syndrome	117
	Lisbeth Tranebjærg

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vi		Contents
8.	HDR Syndrome	133
	Hilde Van Esch and Koenraad Devriendt
9.	Branchio-oto-renal Syndrome	139
	Shrawan Kumar
10.	Treacher Collins Syndrome	153
	Jill Dixon and Michael J. Dixon
11.	MYH9	167
	Anil K. Lalwani and Anand N. Mhatre
12.	Mitochondrial Hearing Loss	179
	Nathan Fischel-Ghodsian

Genes Responsible for Nonsyndromic Hearing Loss

13.Gene Localization and Isolation in Nonsyndromic

	Hearing Loss	199
	Patrick J. Willems
14.	Connexins	207
	Paolo Gasparini
15.	Myosin VI	223
	Nadav Ahituv, Orit Ben-David, Paolo Gasparini,
	and Karen B. Avraham
16.	K+-Channel Gene KCNQ4	239
	Paul Coucke and Patrick J. Willems
17.	COL11A2	257
	Wyman T. McGuirt, Guy Van Camp,
	and Richard J. H. Smith
18.	POU-Domain Transcription Factors	269
	Ronna Hertzano and Karen B. Avraham
19.	a-Tectorin	291
	P. Kevin Legan, Richard J. Goodyear, Guy Van Camp,
	and Guy P. Richardson
20.	EYA4	307
	Sigrid Wayne, Els de Leenheer, Cor W. R. Cremers,
	and Richard J. H. Smith
21.	DFNA 5	321
	Lut Van Laer, Egbert H. Huizing, and Guy Van Camp

Contents		vii
22.	COCH	329
	Nahid G. Robertson and Cynthia C. Morton
23.	Diaphanous	351
	Kelly N. Owens and Mary-Claire King
24.	Claudin 14	373
	Tamar Ben-Yosef, Edward R. Wilcox,
	and Thomas B. Friedman
25.	CDH23	391
	Julie M. Schultz, Robert J. Morell, Andrew J. Gri th,
	and Thomas B. Friedman
26.	TMPRSS3	403
	Stylianos E. Antonarakis and Hamish S. Scott
27.	Otosclerosis	419
	Kris Van Den Bogaert, Richard J. H. Smith,
	and Guy Van Camp

Miscellaneous Factors

28.Mechanisms that Regulate Hair Cell Di erentiation

and Regeneration	429
Brigitte Malgrange, Ingrid Breuskin, Gustave Moonen,
and Philippe P. Lefebvre
29. Genetic Testing: Possibilities and Attitudes	455
Tim Hutchin, Karen Thompson, and Robert Mueller
Index	471

Contributors

Nadav Ahituv, Ph.D. Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

Stylianos E. Antonarakis, M.D., D.Sc. Division of Medical Genetics, University of Geneva Medical School and University Hospitals, Geneva, Switzerland

Karen B. Avraham, Ph.D. Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

Orit Ben-David, M.Sc. Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

Tamar Ben-Yosef, Ph.D. Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland, U.S.A.

Ingrid Breuskin Center for Cellular and Molecular Neuroscience, University of Lie`ge, Lie`ge, Belgium

John A. Butman, M.D., Ph.D. Department of Diagnostic Radiology, Warren G. Magnuson Clinical Center, National Institutes of Health, Bethesda, Maryland, U.S.A.

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