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Your Article Summary
Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss
International Journal of Pediatric Otorhinolaryngology , 09/17/09
Cama E et al. – Clinical features are due to altered formation of pendrin, a chloride/iodide transporter protein expressed in the inner ear, thyroid gland and kidney. A novel substitution was found in exon 7 of the pendrin encoding gene (SLC26A4) that leads to a stop codon, S314X. The new variation was found in compound heterozygosity with L445W mutation in a hearing impaired patient with bilateral Mondini's dysplasia and goitre.
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