Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: Implication for early detection and prevention of deafness

Dai, Pu; Liu, Xin; Han, Dongyi; Qian, Yaping; Huang, Deliang; Yuan, Huijun; Li, Weiming; Yu, Fei; Zhang, Ruining; Lin, Haixin; He, Yong; Yu, Youjun; Sun, Quanzhu; Qin, Huaiyi; Li, Ronghua; Zhang, Xin; Kang, Dongyang; Cao, Juyang; Wg, Young; Guan, Min‐Xin

doi:10.1016/j.bbrc.2005.11.156

Cited by 50 publications

(45 citation statements)

References 28 publications

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“…Of these, the A1555G mutation has been associated with both aminoglycoside antibiotic (AmAn)-induced deafness and nonsyndromic hearing loss (NSHL) in many families worldwide (Guan, 2005;Jacobs et al, 2005). Matrilineal relatives within and among families carrying the A1555G mutation exhibit a wide range of penetrance, severity, and age-of-onset in hearing loss (Malik et al, 2003;Young et al, 2005;Dai et al, 2006). Functional characterization of cell lines derived from matrilineal relatives of a large Arab-Israeli family or one large Chinese family demonstrated that the A1555G mutation caused mild mitochondrial dysfunction and more sensitivity to AmAn (Guan et al, 1996(Guan et al, , 2000.…”

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confidence: 99%

Mitochondrial COX2 G7598A Mutation May Have a Modifying Role in the Phenotypic Manifestation of Aminoglycoside Antibiotic-Induced Deafness Associated with 12S rRNA A1555G Mutation in a Han Chinese Pedigree

Chen

Liu

Jiang

et al. 2013

Genetic Testing and Molecular Biomarkers

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confidence: 99%

Mitochondrial COX2 G7598A Mutation May Have a Modifying Role in the Phenotypic Manifestation of Aminoglycoside Antibiotic-Induced Deafness Associated with 12S rRNA A1555G Mutation in a Han Chinese Pedigree

Chen

Liu

Jiang

et al. 2013

Genetic Testing and Molecular Biomarkers

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“…In some pedigrees, most of the individuals carrying the A1555G mutation subsequently develop SNHL [27], but, in others, the penetrance may be extremely low [73,74]. These findings indicate that the A1555G mutation itself is not sufficient to produce a clinical phenotype but requires the involvement of modifier factors for the phenotypic expression.…”

Section: Mitochondrial Rrna Mutations and Nonsyndromic Hearing Lossmentioning

confidence: 99%

Mitochondrial rRNA and tRNA and hearing function

2007

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The human ear is a delicate sensory apparatus of hearing for normal communication, and its proper functioning is highly dependent on mitochondrial oxidative phosphorylation. The first mitochondrial point mutation for nonsyndromic and aminoglycoside-induced hearing loss was identified in 1993. Since then a number of inherited mitochondrial mutations have been implicated in hearing loss. Most of the molecular defects responsible for mitochondrial disorder-associated hearing loss are mutations in the 12S rRNA gene and tRNA genes. In this review, after a short description of normal hearing mechanisms and mitochondrial genetics, we outline the recent advances that have been made in the identification of deafness-associated mitochondrial mutations, and discuss how mitochondrial dysfunction contributes to hearing loss.

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“…To further investigate the molecular mechanism of maternally transmitted hearing loss, we have initiated a systematic and extended mutational screening of the 12S rRNA gene in several cohorts of hearing-impaired subjects (Li et al, 2004a;Li et al 2005b;Dai et al, 2006;Young et al, 2005;Zhao et al, 2005b;Tang et al, 2007). In the previous investigation, we showed the highly variable penetrance and expressivity of hearing loss in 36 Han Chinese families carrying the A1555G mutation (Li et al, 2004b;Young et al, 2005;Zhao et al, 2005b;Dai et al, 2005;Yuan et al, 2005;Tang et al 2007) and three Han Chinese pedigrees carrying the C1494T mutation (Zhao et al 2004;Wang et al, 2005, Han et al 2007).…”

Section: Introductionmentioning

confidence: 99%

Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees

Chen

Yang

et al. 2007

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We report here the clinical, genetic and molecular characterization of three Han Chinese pedigrees with maternally transmitted aminoglycoside-induced and nonsyndromic bilateral hearing loss. Clinical evaluation revealed the wide range of severity, age-at-onset and audiometric configuration of hearing impairment in matrilineal relatives in these families. The penetrances of hearing loss in these pedigrees were 28%, 20%, and 15%, with an average of 21%, when aminoglycoside-induced deafness was included. When the effect of aminoglycosides was excluded, the penetrances of hearing loss in these seven pedigrees were 21%, 13% and 8%, with an average of 14%. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the presence of the deafnessassociated 12S rRNA C1494T mutation, in addition to distinct sets of mtDNA polymorphism

show abstract

Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: Implication for early detection and prevention of deafness

Cited by 50 publications

References 28 publications

Mitochondrial COX2 G7598A Mutation May Have a Modifying Role in the Phenotypic Manifestation of Aminoglycoside Antibiotic-Induced Deafness Associated with 12S rRNA A1555G Mutation in a Han Chinese Pedigree

Mitochondrial COX2 G7598A Mutation May Have a Modifying Role in the Phenotypic Manifestation of Aminoglycoside Antibiotic-Induced Deafness Associated with 12S rRNA A1555G Mutation in a Han Chinese Pedigree

Mitochondrial rRNA and tRNA and hearing function

Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees

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