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.
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.
Authors: Y Bykhovskaya; M Shohat; K Ehrenman; D Johnson; M Hamon; R M Cantor; B Aouizerat; X Bu; J I Rotter; L Jaber; N Fischel-Ghodsian Journal: Am J Med Genet Date: 1998-06-05
Authors: Susan Kupka; Tímea Tóth; Maciej Wróbel; Ulrike Zeissler; Witold Szyfter; Krzysztof Szyfter; Grazyna Niedzielska; Jerzy Bal; Hans-Peter Zenner; István Sziklai; Nikolaus Blin; Markus Pfister Journal: Hum Mutat Date: 2002-03 Impact factor: 4.878
Authors: K Inoue; D Takai; A Soejima; K Isobe; T Yamasoba; Y Oka; Y Goto; J Hayashi Journal: Biochem Biophys Res Commun Date: 1996-06-25 Impact factor: 3.575
Authors: X Estivill; N Govea; E Barceló; C Badenas; E Romero; L Moral; R Scozzri; L D'Urbano; M Zeviani; A Torroni Journal: Am J Hum Genet Date: 1998-01 Impact factor: 11.025