Genetics And Hearing Impairment

by Martini, Alessandro; Stephens, Dai; Read, Andrew P.

• ISBN13: 9781897635292
• ISBN10: 189763529X
• Edition: 1st
• Format: Paperback
• Copyright: 2006-10-06
• Publisher: Wiley

Summary

The aim of this book is to provide a description of what is currently known about the genetics of deafness for audiologists, otologists and general genetics. It includes a number of background chapters introducing relevant genetics for audiologists and otologists and relevant aspects of auditory intervention for geneticists. These cover the epidemiology of hearing loss and the current situation with regard to gene identification within the field. Chapters on the common syndromes, eg Ushers, Waardenburg, Pendred, Branchio-otorenal and Treacher Collins are followed by coverage of Dominant, Recessive and x-linked non-syndromal deafness, together with mitrochondial deafness. The final section includes chapters on the genetic, rehabilitative and surgical management of genetic disorders.

Author Biography

Alessandro Martini is the author of Genetics and Hearing Impairment, published by Wiley. Dai Stephens is the author of Genetics and Hearing Impairment, published by Wiley.

Table of Contents

Foreword	ix	(2)
Preface	xi	(1)
Contributors	xii	(4)
Acknowledgements	xvi
Part I Background	3	(70)
Chapter 1 Basic mechanisms of hearing and hearing impairment	3	(15)
Karen P Steel
Alan Palmer
Chapter 2 Basic genetic mechanisms	18	(15)
Andrew P Read
Chapter 3 Methods of identifying hearing loss genes	33	(15)
Bruno Dallapiccola
Rita Mingarelli
Andrew P Read
Chapter 4 The use of gene libraries in the study of the molecular genetics of the auditory system	48	(5)
William J Kimberling
Kirk Beisel
Chapter 5 Mouse models for human hearing impairment	53	(11)
Steven DM Brown
Karen P Steel
Chapter 6 Gene linkage in genetic hearing loss: Where are we now?	64	(9)
Cor WRJ Cremers
Part II Audiology	73	(44)
Chapter 7 Epidemiology of genetic hearing impairment	73	(9)
Agnete Parving
Chapter 8 The audiological approach to genetic hearing impairment in children	82	(10)
Edoardo Arslan
Eva Orzan
Chapter 9 Audiometric patterns of genetic hearing loss	92	(8)
Alessandro Martini
Silvano Prosser
Chapter 10 The detection of carriers of genetic hearing loss	100	(9)
Dafydd Stephens
Mary Francis
Chapter 11 Balance function and hearing loss	109	(8)
Claes Moller
Part III Syndromal Conditions	117	(80)
Chapter 12 The diagnostic approach to syndromal hearing loss	117	(13)
Elisa Calzolari
Alberto Sensi
Chapter 13 Auditory dysfunction in genetic disorders of the skeleton	130	(11)
Peter Beighton
Chapter 14 Usher syndrome	141	(5)
William J Kimberling
Richard JH Smith
Chapter 15 Pendred syndrome	146	(11)
William Reardon
Richard C Trembath
Chapter 16 Waardenburg syndrome	157	(9)
Andrew P Read
Valerie E. Newton
Chapter 17 Alport syndrome	166	(6)
Han G Brunner
Chapter 18 Neurofibromatosis type II	172	(8)
D Gareth R Evans
Chapter 19 Branchio-oto-renal syndrome	180	(5)
Richard JH Smith
William J Kimberling
Chapter 20 Treacher Collins syndrome	185	(12)
Michael J Dixon
Part IV Non-Syndromal Hearing Loss	197	(58)
Chapter 21 Autosomal recessive non-syndromal hearing loss	197	(16)
Christine Petit
Chapter 22 Autosomal dominant non-syndromal hearing loss	213	(8)
Guy van Camp
Paul Coucke
Patrick J Willems
Chapter 23 Otosclerosis	221	(10)
Frank Declau
Paul van de Heyning
Chapter 24 X-linked hearing loss	231	(5)
Han G Brunner
Chapter 25 The X-linked recessive progressive mixed hearing loss syndrome with perilymphatic gusher during stapes surgery (DFN3)	236	(8)
Cor WRJ Cremers
Chapter 26 Mitochondrially determined hearing impairment	244	(11)
Nathan Fischel-Ghodsian
Part V Management	255	(30)
Chapter 27 Genetic counselling for hearing impairment	255	(10)
Robert F Mueller
Chapter 28 Surgical problems in craniofacial deformities	265	(9)
Luigi Clauser
Camillo Curioni
Chapter 29 Surgery for congenital conductive and mixed hearing loss without atresia of the ear canal	274	(4)
Cor WRJ Cremers
Chapter 30 Rehabilitation of genetic hearing loss	278	(7)
Susan Bellman
Glossary	285	(9)
Reference	294	(42)
Index	336