ArticleAmerican journal of medical genetics. Part A2005
Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.
Article in American journal of medical genetics. Part A, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 67 citations in OpenAlex.
- Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening.Journal of human genetics · 2014Trial
- Mitophagy Activation by N-Acetylcysteine Protects against Mic60 Deficiency-Induced Auditory Neuropathy.Neuroscience bulletin · 2026Article
- Identification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss.Molecular genetics & genomic medicine · 2026Article
- Mitochondria in human reproduction: novel paradigm in the onset of neurodegenerative disorders.Physiological research · 2023Review
- Article
- Human clinical mutations in mitochondrially encoded subunits of Complex I can be successfully modeled in E. coli.Mitochondrion · 2022Article
- Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene.Audiology research · 2021Review
- Identification of sequence polymorphisms in the mitochondrial deoxyribonucleic acid displacement-loop region as risk factors for systemic lupus erythematosus.Archives of rheumatology · 2021Article
- Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of theFrontiers in cell and developmental biology · 2021Article
- AnCurrent genomics · 2018Article
- Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss.Cell journal · 2018Article
- ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.Scientific reports · 2017Article
- Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.PloS one · 2015Article
- Compound mitochondrial DNA mutations in a neurological patient with ataxia, myoclonus and deafness.Journal of genetics · 2014Article
- Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation.BMC medical genetics · 2011Article
- Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.PloS one · 2011Article
- Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy.Genome medicine · 2010Article
- Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss.Mitochondrion · 2010Article
- Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.BMC medical genetics · 2010Article
- A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2007Article
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
Mutations in mitochondrial DNA (mtDNA), particularly those in the 12S rRNA gene, have been shown to be associated with sensorineural hearing loss. Recently, a systematic and extended mutation screening of the mitochondrial 12S rRNA gene has been initiated in the large clinical population of the Otology Clinic at the Chinese PLA General Hospital with the aim of identifying mtDNA mutations associated with hearing loss. Here we report the clinical and molecular characterization of a Chinese patient with auditory neuropathy. Sequence analysis of mtDNA in this patient identified a T-to-C transition at position 1095 (T1095C) in the 12S rRNA gene and other nucleotide changes. The T1095C mutation is expected to disrupt an evolutionarily conserved A-to-U base-pair, which is at the highly conserved P-site of 12S rRNA. The T1095C mutation has also been found to be associated with hearing loss in several unrelated families. Among other nucleotide changes, two novel variants: the I175V mutation in the CO2 and the V112M mutation in the ND6 localize at highly evolutionarily conserved residues from different organisms. Furthermore, the absence of mutation in the otoferlin related to auditory neuropathy showed that otoferlin may not be involved in the phenotypic expression of T1095C mutation in this subject. These data suggest that the T1095C mutation may be associated with auditory neuropathy in this subject, and two novel variants I175V and V112M may play a role in the phenotypic expression of the T1095C mutation.
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