A decade of innovative findings in the research of molecular biology of hearing and deafness is reflected in this volume. The genetic causes for many types of syndromic and non-syndromic deafness are identified and genotypic-phenotypic relationships are explored. Although the type and degree of deafness caused by mutations in different genes significantly overlap, relatively unique age-related audiometric profiles are also emerging. For example, the audioprofile of DFNA1 and DFNA6-14 is a low-frequency sensorineural hearing loss; with DFNA8-14 it is a mid-frequency sensorineural hearing loss, and with DFNA2, DFNA5 and DFNA20-26 it is a high-frequency progressive hearing loss. Recognizing such audioprofiles can facilitate well-guided decision-making in clinical practice and can direct genetic testing for deafness. With an accurate genetic diagnosis, prognostic information can be provided to patients and their families. In the future, gene-specific habilitation options may also become available. To keep up to date with new clinical standards of diagnosing genetic hearing impairment, this book is indispensable reading to otorhinolaryngologists and audiologists.125 Van Camp G, Smith RJH: Hereditary Hearing Loss Homepage. ... 134 Fuse Y, Doi K, Hasegawa T, Sugii A, Hibino H, Kubo T: Three novel connexin 26 gene mutations in autosomal recessive ... Neuroreport 1999;10:1853a1857.
|Title||:||Genetic Hearing Impairment|
|Author||:||Cornelius Wilhelmus Radboud Jozef Cremers, Richard Smith|
|Publisher||:||Karger Medical and Scientific Publishers - 2002-01-01|