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Center for Nephrology and Metabolic Disorders
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Mitochondrial RNR1 gene

The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

References:

1.

Dai D et al. (2008) Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss.

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2.

Bu X et al. (1992) Two-locus mitochondrial and nuclear gene models for mitochondrial disorders.

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3.

Dai P et al. (2006) Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness.

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4.

Wang Q et al. (2006) Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation.

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5.

Ballana E et al. (2006) Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.

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6.

Yao YG et al. (2006) A reappraisal of complete mtDNA variation in East Asian families with hearing impairment.

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7.

Bravo O et al. (2006) Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene.

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8.

Xing G et al. (2006) Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity.

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9.

Guan MX et al. (2006) Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.

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10.

Tang X et al. (2007) Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.

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11.

Chaig MR et al. (2008) A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment.

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12.

Yuan H et al. (2005) 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.

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13.

Bacino C et al. (1995) Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness.

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14.

Prezant TR et al. (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.

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15.

Guan MX et al. (1996) Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation.

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16.

Pandya A et al. (1997) Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity.

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17.

Gardner JC et al. (1997) Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder.

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18.

Estivill X et al. (1998) Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides.

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19.

Bykhovskaya Y et al. (1998) Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation.

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20.

Casano RA et al. (1998) Hearing loss due to the mitochondrial A1555G mutation in Italian families.

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21.

Abe S et al. () Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation.

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22.

Santorelli FM et al. (1999) Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation.

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23.

Wang Q et al. (2005) Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.

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24.

Pandya A et al. (1999) Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.

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25.

None (1999) Mitochondrial deafness mutations reviewed.

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26.

Casano RA et al. () Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications.

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27.

Torroni A et al. (1999) The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness.

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28.

Bykhovskaya Y et al. (2000) Candidate locus for a nuclear modifier gene for maternally inherited deafness.

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29.

Guan MX et al. (2000) A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity.

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30.

Thyagarajan D et al. (2000) A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy.

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31.

Tessa A et al. (2001) Maternally inherited deafness associated with a T1095C mutation in the mDNA.

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32.

Bykhovskaya Y et al. () Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness.

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33.

ØStergaard E et al. (2002) The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs.

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34.

Malik S et al. (2003) Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family.

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35.

Tekin M et al. (2003) Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey.

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36.

del Castillo FJ et al. (2003) Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.

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37.

Finnilä S et al. (2003) 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.

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38.

Malik SG et al. (2003) Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia.

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39.

Zhao H et al. (2004) Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family.

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40.

Li R et al. (2004) 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.

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41.

Noguchi Y et al. (2004) Audiovestibular findings in patients with mitochondrial A1555G mutation.

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42.

Li R et al. (2004) Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss.

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43.

Zhao L et al. (2004) Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation.

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44.

Young WY et al. (2005) Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.

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45.

Orphanet article

Orphanet ID 138902 external link
46.

NCBI article

NCBI 4549 external link
47.

OMIM.ORG article

Omim 561000 external link
48.

Wikipedia article

Wikipedia EN (RNR1) external link
Update: Aug. 14, 2020
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