Variant "MT-ND6:n.14484T>C"
Search results: 2 records
Variant information
Gene:
MT-ND6 
Variant:
MT-ND6:n.14484T>C 
Genomic location:
chrMT:14484(hg19) 
HGVS:
SO Term RefSeq
RNR2-END:n.14484T>C
dbSNP ID:
rs199476104  
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
2 
Reference:
1 
Effect type:
Expressivity(1) ,Penetrance(1)  
Modifier effect:
Altered incidence(1) ,Risk factor(1)  
Details：
  • Target disease:
    Hearing Impairment (HP:0000365)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Pedigree analysis 
    Effect:
    The A1555G mutation may play a synergistic role in the phenotypic manifestation of LHON associated ND6 T14484C mutation
    Reference:
    PMID17452034
    Title:
    The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss.
    Species studied:
    Human
    Abstract:
    We report here the clinical, genetic and molecular characterization of one three-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON) and hearing loss. Four of 14 matrilineal relatives exhibited the moderate central vision loss at the average age of 12.5 years. Of these, one subject exhibited both LHON and mild hearing impairment. Sequence analysis of the complete mitochondrial genomes in the pedigree showed the presence of homoplasmic LHON-associated ND6 T14484C mutation, deafness-associated 12S rRNA A1555 mutation and 47 other variants belonging to Eastern Asian haplogroup H2. None of other mitochondrial variants was evolutionarily conserved and functional significance. Therefore, the coexistence of the A1555G mutation and T14484C mutations in this Chinese family indicate that the A1555G mutation may play a synergistic role in the phenotypic manifestation of LHON associated ND6 T14484C mutation. However, the incomplete penetrance of vision and hearing loss suggests the involvement of nuclear modifier genes and environmental factors in the phenotypic expression of these mtDNA mutations.
  • Target disease:
    Leber Hereditary Optic Neuropathy (DOID_705)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Pedigree analysis 
    Effect:
    The A1555G mutation may play a synergistic role in the phenotypic manifestation of LHON associated ND6 T14484C mutation
    Reference:
    PMID17452034
    Title:
    The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss.
    Species studied:
    Human
    Abstract:
    We report here the clinical, genetic and molecular characterization of one three-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON) and hearing loss. Four of 14 matrilineal relatives exhibited the moderate central vision loss at the average age of 12.5 years. Of these, one subject exhibited both LHON and mild hearing impairment. Sequence analysis of the complete mitochondrial genomes in the pedigree showed the presence of homoplasmic LHON-associated ND6 T14484C mutation, deafness-associated 12S rRNA A1555 mutation and 47 other variants belonging to Eastern Asian haplogroup H2. None of other mitochondrial variants was evolutionarily conserved and functional significance. Therefore, the coexistence of the A1555G mutation and T14484C mutations in this Chinese family indicate that the A1555G mutation may play a synergistic role in the phenotypic manifestation of LHON associated ND6 T14484C mutation. However, the incomplete penetrance of vision and hearing loss suggests the involvement of nuclear modifier genes and environmental factors in the phenotypic expression of these mtDNA mutations.