Developments in Genetic Hearing Impairment

ISBN-13: 9781861560582 / Angielski / Miękka / 2007 / 200 str.

Dafydd Stephens; Dai Stephens; Andrew Read

Opis

The European Union Concerted Action Programme on Genetic Hearing Impairment is concerned with co-ordinating work in this field to advance progress across the European Union, and with promoting collaboration with countries, such as the USA, outside the EU. The aim is to bring together clinical geneticists and audiologists, as well as basic scientists and other clinicians with a general interest in this field, to standardise the audiological and terminological approaches and publish state of the art interdisciplinary studies.

Spis treści

Preface.

Contributors.

Part I Gene therapy.

Chapter 1 Gene therapy for hearing disorders – AK Lalwani, GJ Carvalho, JJ Han and AN Mhatre.

Part II Radiology.

Chapter 2 Radiology of inner ear defects – PD Phelps.

Part III Computer Systems

Chapter 3 An Internet database on genetic non–syndromal hearing impairments – M. Mazzoli, L. Saggin, SD Hatzopouilos and A Martini.

Chapter 4 A decision support system for the diagnosis of syndromal genetic hearing impairment – S Crino, A D′Amico, S Grisanti and G Grisanti.

Part IV Epidemiology

Chapter 5 Epidemiology of hereditary hearing impairment in childhood – preliminary estimates from the European Union – A Parving, RJC Admiraal, F Apaydin, E Arslan, A Davis, O Dias, H Fortnum, G Grisanti, M Gross, M Hess, K Konradsson, G Lina–Granade, VE Newton, C O′Donovan, E Orzan, M Sorri, D Stephens, MD Tsakanikox, M Waagenaar and K Welzl–Müller.

Chapter 6 The German Registry for Hearing Impairment in Children: preliminary results – A Cherechevskaia, A Costa, E Rosztok, M Hess and M Gross.

Chapter 7 Recessive hearing impairment in two birth cohorts in western Sicily – G Grisanti, AM Amodeo, S Crino and E Martines.

Chapter 8 Aetiology of hearing impairment in children borth in northern Finland ijn 1975–1979 and in 1985–1989 (Abstract) – E Maki–Torkko, P Lindholm, M Vayrynen and M Sorri.

Part V Audiovestibular tests.

Chapter 9 Audiometric criteria for linkage analysis in genetic hearing impairment – FL Wuyts, PH Van de Heyning an F Declau.

Chapter 10 Audioscan notches in carriers of genetic hearing impairment – F Zhao, D Stephens, R Meredith and VE Newton.

Chapter 11 Cochlear irregulatities in obligate carriers of recessive genetic hearing impairment and in control subjects – G Lina–Granade, M Kreiss, T Gelas, L Collet and A Morgon.

Chapter 12 Three–dimensional video–oculography for the detection of genetic vestibular dysfunction at the level of the threee semicircular canals and the otoliths (Abstract) – FL Wuyts, PH Van de Heyning, H Kingma, L Bourmans and D Van Dyck.

Part VI Non–syndromal autosomal recessive hearing impairment.

Chapter 13 Homozygosity mapping applied to hereditary hearing impairment – localizing recessive deafness genes – RJH Smith, A Ramesh, CR Srikumari Srisailapathy, K Fukushima, S Wayne, A Chen, L Van Laer, J Ashley, RIZ Zbar, M Lovett and G Van Camp.

Chapter 14 A Turkish kindred with autosomal recessive non–syndromal hearing impairment segregates DFNB9 (Abstract) – SM Leal, E Vitale, F Apaydin, Y Hu, C Barnwell, M Iber, T Kandogan, U Braendle, HP Zenner, M Schwalb and O Cura.

Chapter 15 Assessment of the contribution of the loci DFNA1–10 and DFNB1–9 in inherited hearing impairment in two populations: The United Arab Emirates and the British Pakistani populations (Abstract) – KA Brown, G Karban, G Parry, LL Moynihan, AH Janjua, LI Al–Gazali, VE Newton, AF Markham and RF Mueller.

Part VII Non–syndromal autosomal dominant hearing impairment.

Chapter 16 Hereditary dominant non–syndromal progressive hearing impairment in a large family in southern Italy – A Bojano, L Califano and P Capparuccia.

Chapter 17 Autosomal dominant non–syndromal progressive sensorineural hearing impairment: audiological evalution of a Dutch DFNA2 family (Abstract) – H Kunst, HAM Marres, PLM Huygen, P Coucke, P Willems and CWRJ Cremers.

Chapter 18 Autosomal dominant congenital severe sensorineural hearing impairment – localization of a disease gene to chromosome 11q by linkage in an Austrian family (Abstract) – K Kirschhofer, JBN Kenyon, DM Hoover, P Franz, K Weopoltshammer, F Wachtler and WJ Kimberling.

Part VIII X–Linked hearing impairment

Chapter 19 Identification of a novel locus for non–syndromal X–linked sonsorineural impairment (DFN6) on Xp22 (Abstract) – I del Castillo, M Villamar, M Sarduy, L Romero, C Herraiz, F Javier Hernandez, M Rodriguez, I Borras, A Montero, J Bellon, M Cruz Tapia and F Moreno.

Part IX Mitochondrial hearing impairment

Chapter 20 Nuclear candidate genes for ′mitochondrial deafness′ – HT Jacobs, ZH Shah, V Migliosi, SK Lehtinen, A Rovio and K O′Dell.

Chapter 21 A mitochondrial point mutation at position 7472 causes early onset hearing impairment and late onset neurological symptoms. Report of a Dutch and a comparison with a Sicilian family – RJH Ensink, PLM Huygen, HAM Marres, K Verhoeven, G Van Camp and GW Padberg.

Chapter 22 Genetic study of mitochondrially inherited sensorineural hearing impairment in eight large families from Spin and Cuba – M Sarduy, I del Castillo, M Villamar, L Romero, C Heraiz, F Javier Hernandex, M Cruz Tapia, C Magarino, D Menendez del Castillo, I Menendez–Alejo, R Ramirez, B Arellano, C Morales, J Bellon and F Moreno.

Chapter 23 Hearing impairment in mitochondrial point mutation – E Orzan, L Bartolomei, V Magnavita and E Arslan.

Chapter 24 Prevalence of the base pair 3243 mutation of the tRNALeu gene in the mitochondrial DNA in a population–based cohort of patients with sensorineural hearing impairment (Abstract) – S Uimonen, I Hassinen, M Sorri and K Majamaa.

Part X Syndromal conditions

Chapter 25 Otorhinolaryngological manifestations of Stickler syndrome linked to chromosome 6 near the COL11A2 gene – RJC Admiraal, HG Brunner, PLM Huygen and CWRJ Cremers.

Chapter 26 Dominant hemifacial microsomia in a four–general pedigree – A McInerney, R Winter and M Bitner–Glindzicz.

Chapter 27 Variability of expression of sensorineural hearing loss in Usher syndrome: report of a family – D Zanetti and AR Antonelli.

Chapter 28 Mpv 17 – Glomerulosclerosis gene is essential for inner ear function – AM Meyer zum Gottesberge, B Eschen, A Reuter, L Kintrup and H Weiher.

Chapter 29 Cloning of a cadidate gene for hearing defects in CATCH 22 syndrome (Abstract) – A Pizzuti, G Novelli, A Ratti, F Amati, A Mari, G Calabrese, S Nicolis, V Silani, B Marino, G Scarlato, S Ottolenghi, R Mingarelli and B Dallapiccola.

References.

Index.

Blurb

This book comprises the first volume of a series which reports the outcomes of the European Union Concerted Action Programme on Genetic Hearing Impairment. The aim is to bring together clinical geneticists and audiologists, as well as basic scientists and other clinicians with a general interest in this field, to standardise the audiological and terminological approaches and publish state of the art interdisciplinary studies.