מתוך medicontext.co.il
WESTPORT, CT (Reuters Health) – About a third of children with sensorineural or mixed hearing loss show mutations in the connexin 26 gene, researchers report in the September issue of Archives of Otolaryngology–Head and Neck Surgery.
Dr. Margaret A. Kenna of Harvard Medical School in Boston and colleagues note that many children with hearing loss "never have a diagnostic assessment beyond audiometric testing." However, this is changing as more "deafness genes" are identified, they say.
To determine what part connexin 26 mutations might play in hearing loss, the researchers studied 107 children from 99 families. All the children had sensorineural or mixed hearing loss with no obvious etiology.
In total, 30 of 99 probands had such mutations. Of these, 18 probands had biallelic mutations and 12 had single mutations. In the biallelic group, nine mutations were homozygous and the other nine were compound heterozygous. Overall, 12 previously identified and three new mutations were found.
The extent of hearing loss in children with biallelic mutations ranged from unilateral high frequency to bilateral profound. Temporal bone abnormalities were seen in two children with biallelic mutations and in two with only one detectable mutation.
Because of the high incidence of mutations, the researchers conclude that in such patients "connexin 26 testing should be performed early in the evaluation, regardless of the severity of the hearing loss."
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