gms | German Medical Science

Mutations in SLC26A4 gene are believed to account for approximately 5% of all cases of recessive genetic deafness. These mutations can result in both syndromic and non-syndromic forms of deafness: the Pendred syndrome and DFNB4 hearing loss, respectively. To further characterize the prevalence of these mutations in hearing impaired Western Europeans, we performed direct sequencing of exons 6 (p.Leu236Pro), 8 (c.1001+G>A, IVS8+1G>A) and 10 (p.Thr416Pro) along with the flanking introns of 400 patients in our cochlear implant program. We found 1% (n=4) of patients to have homozygote mutant status, as well as an additional 1% (n=4) who were compound heterozygotes for mutant alleles. 10 further patients (2.5%) were simple heterozygotes. As such 2% (n=8) of the total cohort were revealed to have a genetic cause for the observed hearing loss. The results of this survey show SLC26A4 to be responsible for a significant proportion of the hearing loss in our cohort, and as such supports the screening of patients with early-onset sensorineural hearing loss.

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