Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey
- 21 January 2003
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 162 (3) , 154-158
- https://doi.org/10.1007/s00431-002-1129-z
Abstract
Considerable differences on the frequencies of the mitochondrial 12S rRNA A1555G and tRNASer(UCN) A7445G mutations have been reported in different populations. Our screening of 168 patients coming from independent Turkish families with prelingual sensorineural non-syndromic deafness revealed three deaf children with A1555G (1.8%) but no examples of A7445G. One proband with the mitochondrial A1555G mutation has also evidence for right parietal infarct on a brain imaging study, for which common thrombotic mutations were found to be negative. Conclusion: This study shows that the mitochondrial A1555G mutation is among the significant causes of prelingual non-syndromic deafness in the Turkish population.Keywords
This publication has 26 references indexed in Scilit:
- Connexin 26 ( GJB2 ) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in CaucasiansHuman Genetics, 2001
- Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe IslandsEuropean Journal of Human Genetics, 2001
- Connexin26 Mutations Associated With Nonsyndromic Hearing LossThe Laryngoscope, 2000
- Prevalent connexin 26 gene (GJB2) mutations in JapaneseJournal of Medical Genetics, 2000
- Prevalence of mitochondrial gene mutations among hearing impaired patientsJournal of Medical Genetics, 2000
- Heterogenous Point Mutations in the Mitochondrial tRNA Ser(UCN) Precursor Coexisting with the A1555G Mutation in Deaf Students from MongoliaAmerican Journal of Human Genetics, 1999
- Three novel connexin26 gene mutations in autosomal recessive nonsyndromic deafnessNeuroReport, 1999
- Maternally Inherited Cardiomyopathy: An Atypical Presentation of the mtDNA 12S rRNA Gene A1555G MutationAmerican Journal of Human Genetics, 1999
- Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with AminoglycosidesAmerican Journal of Human Genetics, 1998
- Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafnessNature Genetics, 1993