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Title: Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree
Authors: Matthijs, Gert ×
Claes, Stephan
Longo-Mbenza, B
Cassiman, Jean-Jacques #
Issue Date: Oct-1996
Series Title: European Journal of Human Genetics vol:4 issue:1 pages:46-51
Abstract: Hereditary non-syndromic deafness has been associated with a point mutation in the mitochondrial 12S rRNA gene. We present data from deaf individuals in 12 nuclear families originating from a small village in Zaire. The patients have a sudden-onset and profound, bilateral sensorineural deafness with a highly variable age of onset. Inheritance is compatible with a mitochondrial DNA defect. Sequencing of the mitochondrial 12S rRNA gene revealed the presence of a homoplasmic 1555 A to G mutation in the patients and their normal siblings. The mutation is invariably associated with a T to C transition at 1420 in the same gene. Additional (mitochondrial or autosomal) genetic defect(s) or an environmental factor must be implicated in the expression of the defect. In Epstein-Barr-virus-transformed lymphocytes harbouring the normal or mutant mitochondrial DNA, no differential effect of aminoglycosides on protein translation was observed.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Human Mutations and Polymorphisms Section (-)
Research Group Psychiatry
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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