Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics

• DOI: 10.1186/1479-5876-9-4
• Publication Date: 2011-01-05T20:04:06Z
• Authors: Zhisen Shen; Jing Zheng; Bobei Chen; Guanghua Peng; Ting Zhang; Shasha Gong; Yi Zhu; Chuqin Zhang; Ronghua Li; Li Yang; Jianjin Zhou; Ting Cai; Lihua Jin; Jianxin Lu; Min-Xin Guan
• Keywords: Otology; Ototoxicity; Han Chinese; Hearing impaired

Abstract Background Aminoglycoside ototoxicity is one of the common health problems. Mitochondrial 12S rRNA mutations are important causes aminoglycoside ototoxicity. However, incidences associated with less known. Methods A total 440 Chinese pediatric hearing-impaired subjects were recruited from two otology clinics in Ningbo and Wenzhou cities Zhejiang Province, China. These underwent clinical, genetic evaluation molecular analysis mitochondrial rRNA. Resultant mtDNA variants evaluated by structural phylogenetic analysis. Results The study samples consisted 227 males 213 females. age all participants ranged 1 years old to 18 years, median 9 years. Ninety-eight (58 40 females) had a history exposure aminoglycosides, accounting for 22.3% cases hearing loss this cohort. Molecular gene identified 41 (39 known 2 novel) variants. deafness-associated 1555A > G, 1494C T 1095T C 7.5%, 0.45% 0.91% entire subjects, respectively, 21.4%, 2% among 98 ototoxicity, respectively. evaluations showed that novel 747A G variant 839A 1027A 1310C 1413T conferred increased sensitivity aminoglycosides or nonsyndromic deafness as they absent 449 controls localized at highly conserved nucleotides other polymorphisms. Of 44 carrying definite putative deafness-related variants, only subject harbored 235DelC/299DelAT GJB2 gene, while none was detected 43 subjects. Conclusions Mutations accounted ~30% aminoglycoside-induced Our data strongly support idea hot spot have been providing valuable information technology predict which individuals risk improve safety antibiotic therapy, eventually decrease incidence deafness.