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

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

A decade of cutting edge findings within the examine of molecular biology of listening to and deafness is mirrored during this quantity. The genetic reasons 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 because of mutations in numerous genes considerably overlap, rather special 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 checking out for deafness. With a correct genetic prognosis, prognostic details will 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)

Example text

Sixty percent of the type I cases are due to mutations DNA Diagnostics of HI 15 in the MYO7A gene (USH1B) [17] and 80% of the type II cases are caused by defective alleles of the Usherin gene (USH2A) [23, 24]. The harmonin gene (USH1C) [18, 19] and the CDH23 gene (USH1D) [20, 21] together are responsible for about 15% of the type I cases [24]. Thus, for 75% of the patients with Usher syndrome type I and 80% with Usher syndrome type II, mutation detection is possible [24]. USH1F (PCDH15) is rare [24].

Therefore, it is of great importance to have an extensive clinical description of the hearing impairment for families under study and for the families described in the literature and in which the specific loci/genes are identified. However, since many additional loci/genes are expected to be causative for autosomal dominant hearing loss, this approach will only be successful for a limited number of families. Furthermore, the procedure is time-consuming. When none of the candidate loci shows linkage or no mutation is found in the candidate genes the only option is a whole genome scan if the available family is of sufficient size.

The carrier frequency in Europe varies from 1 in 79 in southern Europe to 1 in 35 in central and northern Europe [133]. The 235delC mutation in Cx26 is common in Japan [134] and in patients of Jewish origin the 167delT has been found to be common [130]. 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].

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