ArticleJournal of medical genetics1992
Sensorineural deafness inherited as a tissue specific mitochondrial disorder.
Article in Journal of medical genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models.International journal of molecular sciences · 2023Review
- Human Mitoribosome Biogenesis and Its Emerging Links to Disease.International journal of molecular sciences · 2021Review
- Novel nucleotide changes in mutational analysis of mitochondrial 12SrRNA gene in patients with nonsyndromic and aminoglycoside-induced hearing loss.Molecular biology reports · 2013Article
- Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins.Molecular genetics and metabolism · 2009Article
- Expression and maintenance of mitochondrial DNA: new insights into human disease pathology.The American journal of pathology · 2008Article
- GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals.Journal of genetics · 2008Article
- Review
- A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice.Nature genetics · 2001Article
- Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.American journal of human genetics · 1999Article
- Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder.Journal of medical genetics · 1997Article
- Nonsyndromic hearing impairment: unparalleled heterogeneity.American journal of human genetics · 1997Review
- Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity.Journal of medical genetics · 1997Article
- Molecular basis of mitochondrial DNA disease.Journal of bioenergetics and biomembranes · 1994Review
- Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).Journal of medical genetics · 1994Review
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
We present here a large Israeli-Arab kindred with hereditary deafness. In this family 55 deaf subjects (29M, 26F), who are otherwise healthy, have been identified and traced back five generations to one common female ancestor. The deafness is progressive in nature, usually presenting in infancy and childhood. Audiometry on six deaf and seven unaffected subjects was consistent with severe to profound sensorineural hearing loss. Based on formal family segregation analysis, the inheritance of deafness in this family closely fits the expectation of a two locus model owing to the simultaneous mutation of a mitochondrial gene and an autosomal recessive gene. Thus, this disorder appears to have the unusual features of being an inherited tissue specific mitochondrial disease and apparently requiring the homozygous presence of a nuclear gene for clinical expression. Most importantly, this disorder presents a unique opportunity to investigate the molecular basis of hereditary non-syndromic deafness and normal hearing.
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