PMID: 9490575DOI: 10.1086/301676Mar 7, 1998

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

American Journal of Human Genetics
X EstivillA Torroni
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Abstract

Hearing loss involves both genetic and environmental factors. A mutation (A1555G) in the mtDNA has been associated with aminoglycoside-induced and nonsyndromic sensorineural deafness. The pathological significance of this mutation in Caucasoid families has not been established, and its relationship with antibiotic treatment is not well understood. We studied 70 Spanish families with sensorineural deafness (36 congenital and 34 late onset) for the mtDNA A1555G mutation. The A1555G mutation was found in 19 families with maternally transmitted deafness but not in the other 51 families or in 200 control subjects. In 12 families all the patients with the A1555G mutation who received aminoglycosides became deaf, representing 30.3% of the deaf patients in these families. None of the deaf patients from seven other families received aminoglycosides. Overall, only 17.7% of the patients with deafness and the A1555G mutation had been treated with aminoglycosides. The age at onset of deafness was lower (median age 5 years, range 1-52 years) in those treated with aminoglycosides than in those who did not receive antibiotics (median age 20 years, range 1-65 years) (P < .001). The mtDNA of these families belongs to haplotypes common in Europea...Continue Reading

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Aug 29, 2012·International Journal of Pediatric Otorhinolaryngology·Maria de la Luz Arenas-SordoM Tekin

Carrier frequency of the 35delG and A1555G deafness mutations in the Argentinean population. Impact on the newborn hearing screening

Feb 6, 2007·International Journal of Pediatric Otorhinolaryngology·Luis Pablo GravinaLilien Chertkoff

Aminoglycoside stress together with the 12S rRNA 1494C>T mutation leads to mitophagy

Dec 5, 2014·PloS One·Jialing YuMin-Xin Guan

Antimicrobial Activity, AME Resistance, and A-Site Binding Studies of Anthraquinone-Neomycin Conjugates

Jan 20, 2017·ACS Infectious Diseases·Natalya N DegtyarevaDev P Arya

PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss

Dec 23, 2015·Scientific Reports·Giorgia GirottoP Gasparini

The role of routine hearing screening in children with cystic fibrosis on aminoglycosides: A systematic review

Jul 11, 2015·The Laryngoscope·Zainab FarzalRon B Mitchell

Prevalence of the A1555G (12S rRNA) and tRNASer(UCN) mitochondrial mutations in hearing-impaired Brazilian patients

Feb 14, 2006·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·Ronaldo Serafim Abreu-SilvaRegina Célia Mingroni-Netto

Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment

Feb 7, 2006·Biochemical and Biophysical Research Communications·Ester BallanaX Estivill

Genetic factors in aminoglycoside toxicity

Feb 23, 2005·Pharmacogenomics·N Fischel-Ghodsian

Genetic features, clinical phenotypes, and prevalence of sensorineural hearing loss associated with the 961delT mitochondrial mutation

May 27, 2005·Auris, Nasus, Larynx·Katsuhiko KobayashiShin-Ichi Usami

The effect of the mtDNA4834 deletion on hearing

Apr 18, 2006·Biochemical and Biophysical Research Communications·Wei-Jia KongMin-Xin Guan

Correspondence regarding Ballana et al., "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment"

Apr 1, 2006·Biochemical and Biophysical Research Communications·Ronaldo Serafim Abreu-SilvaRegina Célia Mingroni-Netto

Screening of the general Polish population for deafness-associated mutations in mitochondrial 12S rRNA and tRNA Ser(UCN) genes

Apr 18, 2009·Genetic Testing and Molecular Biomarkers·Małgorzata RydzaniczKrzysztof Szyfter

Audiological and genetic features of the mtDNA mutations

Jun 24, 2008·Acta Oto-laryngologica·X Z LiuDenise Yan

Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment

Apr 3, 2009·Biochemical and Biophysical Research Communications·Vanessa Cristine Sousa de MoraesE L Sartorato

Detection of mutations in genes associated with hearing loss using a microarray-based approach

Aug 26, 2006·The Journal of Molecular Diagnostics : JMD·Kirby SiemeringH H Dahl

A genetic approach to the child with sensorineural hearing loss

Aug 24, 2005·Seminars in Perinatology·Heidi L Rehm

Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening

Jan 21, 2017·Biochemical and Biophysical Research Communications·Olfa Alila-FersiFaiza Fakhfakh

Pathogenicity of two COQ7 mutations and responses to 2,4-dihydroxybenzoate bypass treatment

Apr 15, 2017·Journal of Cellular and Molecular Medicine·Ying WangSiegfried Hekimi

Audiological features and mitochondrial DNA sequence in a large family carrying mitochondrial A1555G mutation without use of aminoglycoside

Mar 11, 2005·The Annals of Otology, Rhinology, and Laryngology·Tatsuo MatsunagaShin-Ichi Usami

The clinical and audiologic features of hearing loss due to mitochondrial mutations

Mar 26, 2013·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·Joshua C YelvertonKelley M Dodson

Normal neonatal hearing screening did not preclude sensorineural hearing loss in two-year-old very preterm infants

Jun 22, 2017·Acta Paediatrica·Inge L van Noort-van der SpekNynke Weisglas-Kuperus

Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations

Jul 13, 2012·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·Peter J KingXue-Zhong Liu

Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options

Oct 2, 2001·American Journal of Medical Genetics·D R Thorburn, H H Dahl

Clinical spectrum and diagnosis of mitochondrial disorders

Oct 2, 2001·American Journal of Medical Genetics·A Munnich, P Rustin

Epidemiology and treatment of mitochondrial disorders

Oct 2, 2001·American Journal of Medical Genetics·P F Chinnery, D M Turnbull

Maternally inherited nonsyndromic hearing loss

May 26, 1999·American Journal of Medical Genetics·R A FriedmanN Fischel-Ghodsian

Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation

Jun 19, 1998·American Journal of Medical Genetics·Y BykhovskayaN Fischel-Ghodsian

Mitochondrial deafness mutations reviewed

Apr 29, 1999·Human Mutation·N Fischel-Ghodsian

Modifier variant of METTL13 suppresses human GAB1-associated profound deafness

Feb 7, 2018·The Journal of Clinical Investigation·Rizwan YousafSaima Riazuddin

Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss

Dec 31, 2003·American Journal of Medical Genetics. Part a·Ronghua LiMin-Xin Guan

Audiological follow-up of children with the m.1555A>G mutation in mitochondrial DNA

Oct 12, 2012·Audiology & Neuro-otology·Sanna HäkliKari Majamaa

Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families

May 21, 2004·Clinical Genetics·E DomènechV Nunes

Deafness due to A1555G mitochondrial mutation without use of aminoglycoside

Jun 5, 2004·The Laryngoscope·Tatsuo MatsunagaShin-Ichi Usami

Sensorineural hearing loss and the 1555G mitochondrial DNA mutation

Apr 29, 1999·Acta Oto-laryngologica·Timothy P Hutchin

The spectrum of hearing loss due to mitochondrial DNA defects

Dec 28, 1999·Brain : a Journal of Neurology·P F ChinneryT D Griffiths

Etiologic diagnosis of sensorineural hearing loss in adults

Jun 10, 2005·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·Simon I AngeliXue Z Liu

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

Aug 5, 2004·European Journal of Human Genetics : EJHG·Howard T JacobsRobert F Mueller

Hereditary deafness and phenotyping in humans

Sep 27, 2002·British Medical Bulletin·Maria Bitner-Glindzicz

Audiovestibular findings in patients with mitochondrial A1555G mutation

Feb 3, 2004·The Laryngoscope·Yoshihiro NoguchiKen Kitamura

Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss

Sep 27, 2002·Human Mutation·Alessandro FerrarisP Fortina

Analysis of a large-scale screening of mitochondrial DNA m.1555A>G mutation in 2417 deaf-mute students in northwest of China

Jul 29, 2010·Genetic Testing and Molecular Biomarkers·Yu-Fen GuoQiu-Ju Wang

Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss

Aug 21, 2010·Genetic Testing and Molecular Biomarkers·D T UeharaRegina Célia Mingroni-Netto

Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation

Dec 18, 2001·American Journal of Medical Genetics·S AbeShin-Ichi Usami

Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss

Sep 7, 2006·American Journal of Medical Genetics. Part a·Wie-Yen YoungMin-Xin Guan

Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor

Dec 4, 2002·European Journal of Human Genetics : EJHG·Elise ChapiroSandrine Marlin

Mitochondrial deafness

May 11, 2007·Clinical Genetics·H KokotasP J Willems

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations

Nov 14, 2007·Human Mutation·Ester BallanaX Estivill

Mitochondrial ND5 T12338C, tRNA(Cys) T5802C, and tRNA(Thr) G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees

Apr 5, 2008·American Journal of Medical Genetics. Part a·Bobei ChenMin-Xin Guan

Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness

Apr 9, 2008·Audiology & Neuro-otology·D OtaeguiA López de Munain

Relevance of the A1555G Mutation in the 12S rRNA Gene for Hearing Impairment in Austria

Aug 21, 2007·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Reinhard RamsebnerKlemens Frei

Analysis of mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia

Aug 27, 2009·Genetika·L U DzhemilevaE K Khusnutdinova

Chromosome imbalances in syndromic hearing loss

Oct 8, 2009·Clinical Genetics·A L P M CatelaniC Rosenberg

Audiologic testing and molecular analysis of 12S rRNA in patients receiving aminoglycosides

Apr 5, 2005·The Laryngoscope·Nicolas GürtlerAnil K Lalwani

Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation

Aug 27, 2003·European Journal of Human Genetics : EJHG·Saara Finnilä, Kari Majamaa

Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss

Sep 10, 2005·American Journal of Medical Genetics. Part a·Huijun YuanMin-Xin Guan

Contribution of the GSTP1 c.313A>G variant to hearing loss risk in patients exposed to platin chemotherapy during childhood

Oct 27, 2018·Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico·P H P LibermanD M Carraro

Aminoglycoside toxicity in neonates: something to worry about?

Jan 25, 2014·Expert Review of Anti-infective Therapy·Alison KentPaul T Heath

Complete mitochondrial genome analysis and clinical documentation of a five-generational Indian family with mitochondrial 1555A>G mutation and postlingual hearing loss

Mar 26, 2014·Annals of Human Genetics·Mahalingam SubathraC R Srikumari Srisailapathy

Molecular diagnosis of hearing loss

Apr 23, 2008·Current Protocols in Human Genetics·Heidi L Rehm

Reply to comments on: "Obesity associated with a novel mitochondrial tRNACys 5802A>G mutation in a Chinese family"

Feb 1, 2020·Bioscience Reports·Jinling WangJunFen Fu

Vestibular and hearing loss in genetic and metabolic disorders

Mar 31, 1999·Current Opinion in Neurology·P GaspariniP Fortina

Inheritance of mitochondrial DNA in humans: implications for rare and common diseases

Mar 19, 2020·Journal of Internal Medicine·W Wei, P F Chinnery

The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression

Sep 19, 1998·Molecular and Cellular Biology·M X GuanG Attardi

Genetic Epidemiology of Mitochondrial Pathogenic Variants Causing Nonsyndromic Hearing Loss in a Large Cohort of South Indian Hearing Impaired Individuals

Aug 18, 2016·Annals of Human Genetics·Mahalingam SubathraC R Srikumari Srisailapathy

The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population

Apr 16, 2011·The Laryngoscope·Megan EalyRichard J H Smith

A view on clinical genetics and genomics in Spain: of challenges and opportunities

Jul 29, 2016·Molecular Genetics & Genomic Medicine·Teresa PàmpolsAurora Pujol

PharmGKB summary: very important pharmacogene information for MT-RNR1

Sep 23, 2016·Pharmacogenetics and Genomics·Julia M BarbarinoTeri E Klein

A review of cochlear implantation in mitochondrial sensorineural hearing loss

Jun 14, 2003·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·A R SinnathurayJ G Toner

High-frequency involved hearing loss caused by novel mitochondrial DNA mutation in 16S ribosomal RNA gene

Apr 29, 2014·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Satoko AbeShin-Ichi Usami

Investigating the importance of individual mitochondrial genotype in susceptibility to drug-induced toxicity

May 27, 2020·Biochemical Society Transactions·Sophie L PenmanAmy E Chadwick

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

Sep 12, 2000·Human Mutation·R RabionetX Estivill

Hearing loss due to the mitochondrial A1555G mutation in Italian families

Oct 21, 1998·American Journal of Medical Genetics·R A CasanoN Fischel-Ghodsian

Pharmacogenetics and Predictive Testing of Drug Hypersensitivity Reactions

Nov 8, 2016·Frontiers in Pharmacology·Ruwen Böhm, Ingolf Cascorbi

Overexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status or hearing

Oct 16, 2015·Human Molecular Genetics·Seungmin LeeNils-Göran Larsson

Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family

Oct 19, 2017·Annals of Human Genetics·Juliana Sampaio-SilvaKarina Lezirovitz

The Mitochondrial COI/tRNASER(UCN) G7444A Mutation may be Associated with Hearing Impairment in a Han Chinese Family

Jun 8, 2018·Balkan Journal of Medical Genetics : BJMG·Ding YLeng J-H

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

Jan 9, 2019·Frontiers in Genetics·Céline BrisVincent Procaccio

Concurrent hearing and genetic screening in a general newborn population

Feb 1, 2020·Human Genetics·Ling GuoZhiyu Peng

Mitochondrial DNA mutations and essential hypertension (Review)

Aug 1, 2013·International Journal of Molecular Medicine·Yu DingJinyu Huang

Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes

May 14, 2016·Molecular Medicine Reports·Yunlong Li, Baosheng Zhu

Aminoglycoside-associated nonsyndromic deafness and speech disorder in mitochondrial A1555G mutation in a family: A case report

Oct 19, 2018·Medicine·Yang-Hao OuChin-San Liu

Pharmacogenomics of Antibiotics

Aug 23, 2020·International Journal of Molecular Sciences·Gabriele StoccoGiuliana Decorti

The Importance of Early Genetic Diagnostics of Hearing Loss in Children

Sep 18, 2020·Medicina·Nina Božanić UrbančičKatarina Trebušak Podkrajšek

Mitochondrial encephalomyopathies

Dec 16, 1998·Current Opinion in Neurology·E A Shoubridge

The search of a genetic basis for noise-induced hearing loss (NIHL)

Sep 4, 2010·Annals of Human Biology·Ronaldo Serafim Abreu-SilvaRegina Célia Mingroni-Netto

Auditory measurements in parents of individuals with autosomal recessive hearing loss

Jan 29, 2011·Pró-fono : revista de atualização científica·Larissa Suyama da SilvaRenata Mota Mamede Carvallo

Hearing loss and epilepsy may be associated with the novel mitochondrial tRNASer(UCN) 7472delC mutation in a Chinese family

Dec 17, 2008·Yi chuan = Hereditas·Jian-Yue ZhaoMin-Xin Guan

Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature

Jan 25, 2008·Bioscience Reports·Stefano BerrettiniGabriele Siciliano

Clinical syndromes associated with mtDNA mutations: where we stand after 30 years

Jul 22, 2018·Essays in Biochemistry·Valerio Carelli, Chiara La Morgia

Frequency of mitochondrial m.1555A > G mutation in Syrian patients with non-syndromic hearing impairment

Jun 27, 2018·BMC Ear, Nose, and Throat Disorders·Hazem KaheelMarlies Kniper

Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies

Nov 6, 2018·Current Genetic Medicine Reports·Colleen C MurareskuMarni J Falk

Clone-contig and STS maps of the hereditary hemochromatosis region on human chromosome 6p21.3-p22

May 1, 1997·Genome Research·P LauerA Gnirke

Genetics beyond Mendel. Understanding nontraditional inheritance patterns

Sep 27, 2000·Postgraduate Medicine·J Wagstaff

Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey

Mar 26, 2003·European Journal of Pediatrics·M TekinN Akar

Novel Role of the Mitochondrial Protein Fus1 in Protection from Premature Hearing Loss via Regulation of Oxidative Stress and Nutrient and Energy Sensing Pathways in the Inner Ear

Feb 1, 2017·Antioxidants & Redox Signaling·Winston J T TanAlla V Ivanova

Contribution of the tRNAIle 4317A→G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A→G mutation

Jan 20, 2018·The Journal of Biological Chemistry·Feilong MengMin-Xin Guan

Towards the Prevention of Aminoglycoside-Related Hearing Loss

Nov 3, 2017·Frontiers in Cellular Neuroscience·Mary E O'SullivanAlan G Cheng

New genetics of hearing loss

Feb 8, 2000·Teratology·B R Korf

Mitochondrial metabolism and DNA methylation: a review of the interaction between two genomes

Nov 25, 2020·Clinical Epigenetics·Amanda F C Lopes

The Diseased Mitoribosome

Dec 15, 2020·FEBS Letters·Alberto FerrariAntoni Barrientos

Mitochondrial mutations in non-syndromic hearing loss at UAE

Sep 2, 2020·International Journal of Pediatric Otorhinolaryngology·Walaa Kamal Eldin MohamedAbdelaziz Tlili

Related Concepts

Teens
Aminoglycosides
Bacteriocidal Agents
DNA, Mitochondrial
Sensory Hearing Loss
Genealogical Tree
Nested Polymerase Chain Reaction
Late Onset Disorders
Genetic Predisposition to Disease

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