title: Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree.
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.
authors.affiliation: Centre for Human Genetics, University of Leuven, Belgium.
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
authors.forename: S
authors.initials: S
authors.lastname: Claes
authors.forename: B
authors.initials: B
authors.lastname: Longo-Mbenza
authors.forename: J J
authors.initials: JJ
authors.lastname: Cassiman
mesh_terms: D000617:Aminoglycosides; D000900:Anti-Bacterial Agents / Q000494:pharmacology; D001483:Base Sequence; D002472:Cell Transformation, Viral; D017931:DNA Primers; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics; D003638:Deafness / Q000453:epidemiology / Q000235:genetics*; D015023:Democratic Republic of the Congo; D004591:Electrophoresis, Polyacrylamide Gel; D004854:Herpesvirus 4, Human; D006801:Humans; D008214:Lymphocytes / Q000187:drug effects; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012313:RNA / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012335:RNA, Ribosomal / Q000235:genetics*
chemical_list: D000617:Aminoglycosides; D000900:Anti-Bacterial Agents; D017931:DNA Primers; D004272:DNA, Mitochondrial; D000077278:RNA, Mitochondrial; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; D012313:RNA