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GENATLAS PHENOTYPE
last update : 24-10-2012
Symbol MTDFN1
Location mt
Name deafness late onset, progressive, neurosensory non syndromic 1
Corresponding gene COX2 , TRNH
Main clinical features
  • frequent in the Japanese population, with aminoglycoside sensitivity, strong decrease rate of mitochondrial protein synthesis in the presence of aminoglycoside
    • Genetic determination mitochondrial
    Function/system disorder ear
    Type disease
    Gene product
    Name . tRNA12S, (1555nt,A->G), (1095T>C), (C1494>T) . subunit COII of complex IV (m.8078G>A [p.MT-CO2:Val165Ile]) . heteroplasmic T12201C mutation in TRNH (PMID: 21931169)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     missense mutation (G28T) in TRMU, altering an invariant amino acid residue (A10S) in the N-terminal region associated to mitochondrial 12S ribosomal RNA (rRNA) A1555G mutation
    Remark(s) mutation decrease the accuracy of translation and render the ribosomal decoding site hypersusceptible to aminoglycoside antibiotics