Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss
J Lu, Z Li, Y Zhu, A Yang, R Li, J Zheng, Q Cai, G Peng… - Mitochondrion, 2010 - Elsevier
In this report, we investigated the frequency and spectrum of mitochondrial 12S rRNA
variants in a large cohort of 1642 Han Chinese pediatric subjects with aminoglycoside-
induced and nonsyndromic hearing loss. Mutational analysis of 12S rRNA gene in these
subjects identified 68 (54 known and 14 novel) variants. The frequencies of known 1555A>
G and 1494C> T mutations were 3.96% and 0.18%, respectively, in this cohort with
nonsyndromic and aminoglycoside-induced hearing loss. Prevalence of other putative …
variants in a large cohort of 1642 Han Chinese pediatric subjects with aminoglycoside-
induced and nonsyndromic hearing loss. Mutational analysis of 12S rRNA gene in these
subjects identified 68 (54 known and 14 novel) variants. The frequencies of known 1555A>
G and 1494C> T mutations were 3.96% and 0.18%, respectively, in this cohort with
nonsyndromic and aminoglycoside-induced hearing loss. Prevalence of other putative …