Hearing loss is one of the commonest genetic disease which impact human health. There are about 60% hearing loss patient because of the genetic facters. result of the overlapping factors of genetic predisposition and environmental impact.
Mutations in the mitochondrial 12S rRNA gene, particularly the m.1555A >G have been repeatedly associated with increased susceptibility to the ototoxic effect of aminoglycoside antibiotics such as gentamycin, tobramycin, amikacin, kanamycin, or streptomycin. The Chinese government suggest the children blow 12-years old do not to use the aminoglycosides. But the aminoglycoside antimicrobials is the first-line Antimicrobial agents. Aminoglycosides,typically tobramycin, in conjunction with a β-lactam are the preferred treatment, because there is some evidens indicating that 20% of Pseudomonas infections are resistant to quinolones (e.g., ciprofloxicin), whereas 4% are resistant to tobramycin. The mt.1555A >G mutation is reported to have 100% penetrance when patients are exposed to aminoglycosides.
We screened the total 17097 neonatal children were included in this study,who were mainly Beijing register and all born in Beijing. 810(4.73%) children showed the mutation, 51(0.29%) showed the mutation in mitochondrial 12S rRNA. Among them, 47(0.27%) showed the A1555G mutation and 36/47 appeared to be homoplasmic for this mutation; 3 showed the C1494T mutation and all of them appeared homogeneous mutation. In conclusion, by neonatal screening we considered that screening deafness gene mutations for neonatal before using the aminoglycoside antibiotics is very necessary, that not only avoid the ototoxic, but also make the aminoglycoside antibiotics play a vital role in the clinic.