Table 1

mtDNA mutations detected in cases of congenital/childhood onset NSSHI

GeneMutationFamilialSporadic (n=110)
Sibs (n=75)>1 generation affected1-150 (n=17)
12SrRNAA1555G0/750/170/110
tRNASer(UCN) A7445G0/751/170/110
7472insC0/750/171/110
T7510C0/751/170/110
T7511C0/750/170/110
T7512C0/750/170/110
tRNALeu(UUR) A3243G0/751/170/110
Total0/75 (0%)3/17 (17.6%)1/110 (0.9%)4/202 (2%)
  • 1-150 In 10 families, hearing impairment was transmitted only through the maternal lineage.