Download Genetic Hearing Impairment: Its Clinical Presentations by C.W.R.J. Cremers, R.J.H. Smith, P.J. Bradley PDF

By C.W.R.J. Cremers, R.J.H. Smith, P.J. Bradley

A decade of cutting edge findings within the learn of molecular biology of listening to and deafness is mirrored during this quantity. The genetic explanations for plenty of varieties of syndromic and non-syndromic deafness are pointed out and genotypic-phenotypic relationships are explored. even if the kind and measure of deafness brought on by mutations in several genes considerably overlap, quite targeted age-related audiometric profiles also are rising. for instance, the audioprofile of DFNA1 and DFNA6-14 is a low-frequency sensorineural listening to loss; with DFNA8-14 it's a mid-frequency sensorineural listening to loss, and with DFNA2, DFNA5 and DFNA20-26 it's a high-frequency revolutionary listening to loss. spotting such audioprofiles can facilitate well-guided decision-making in medical perform and will direct genetic trying out for deafness. With a correct genetic analysis, prognostic details might be supplied to sufferers and their households.

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Extra resources for Genetic Hearing Impairment: Its Clinical Presentations (Advances in Otorhinolaryngology, Vol. 61)

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Hum Mol Genet 1997;6:727–737. 7 Tassabehji M, Read AP, Newton VE, Harris R, Balling R, Gruss P, Strachan T: Waardenburg’s syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992;355:635–636. 8 Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT: Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet 1993;52:455–462. 9 Tassabehji M, Newton VE, Read AP: Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

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Screening for these mutations is fast and also screening for the second mutation in the gene if only one allele carries the 35delG mutation is easily performed due to the small size of the gene. So far, 48 different recessive mutations have been described [135]. For autosomal recessive families in which Cx26 involvement could be excluded, analysis of candidate loci or genes is necessary. However, generally the families are small which hampers linkage analysis. Mutation analysis of candidate genes is possible but the gene involved is known only for part of the loci and because it is time-consuming this leads to high costs.

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