Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA Ser(UCN) gene
- 1 June 1999
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 52 (9) , 1905
- https://doi.org/10.1212/wnl.52.9.1905
Abstract
Article abstract Thirty-six of 43 maternally related members of a large African American family experienced hearing loss. A muscle biopsy specimen from the proband showed cytochrome c oxidase (COX)-deficient fibers but no ragged-red fibers; biochemical analysis showed marked reduction of COX activity. A novel T7511C point mutation in the tRNASer(UCN) gene was present in almost homoplasmic levels (>95%) in the blood of 18 of 20 family members, and was also found in lower abundance in the other two. Single-fiber PCR showed that the mutational load was greater in COX-deficient muscle fibers. The tRNASer(UCN) gene may be a “hot spot” for mutations associated with maternally transmitted hearing loss.Keywords
This publication has 8 references indexed in Scilit:
- Maternally inherited nonsyndromic hearing lossAmerican Journal of Medical Genetics, 1999
- Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNAser(UCN) geneAnnals of Neurology, 1998
- Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNASer(UCN) mutationAnnals of Neurology, 1998
- Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genomeNucleic Acids Research, 1998
- A Novel Point Mutation in the Mitochondrial tRNASer(UCN) Gene Detected in a Family with MERRF/MELAS Overlap SyndromeBiochemical and Biophysical Research Communications, 1995
- Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA Ser(UCN) geneHuman Molecular Genetics, 1995
- A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafnessHuman Mutation, 1994
- Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafnessNature Genetics, 1993