Abstract：
BACKGROUND:The A1555G mutation in mitochondrial DNA is the cause of hearing impairment in about 50% of all carriers. The severity and onset of this impairment is predominantly affected by the use of aminoglycosides. PATIENTS AND METHODS:A total of 391 patients displaying sporadic, non-syndromic, mild to severe hearing impairment were analyzed for the A1555G mutation using molecular genetic methods. RESULTS:We analysed additional family members of the two patients (0.5% of the total) who had the mutation. All maternal relatives carried the mutation, but only three individuals from the two families displayed a variable sensorineural hearing loss. CONCLUSION:The A1555G mutation is infrequently involved as a genetic cause of sporadic, non-syndromic hearing impairment. Nevertheless, based on the variable clinical outcome of hearing impairment and the possibility of preventive steps, a genetic test in this patient subgroup is indicated.
journal_name
HNOjournal_title
HNOauthors
Kupka S,Bodden-Kamps B,Baur M,Zenner HP,Pfister Mdoi
10.1007/s00106-003-0994-8keywords:
subject
Has Abstractpub_date
2004-11-01 00:00:00pages
968-72issue
11eissn
0017-6192issn
1433-0458journal_volume
52pub_type
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