Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss

• Published in: Biochemical and biophysical research communications Vol. 362; no. 1; p. 94
• Main Authors: Yuan, Huijun, Chen, Jing, Liu, Xin, Cheng, Jing, Wang, Xinjian, Yang, Li, Yang, Shuzhi, Cao, Juyang, Kang, Dongyang, Dai, Pu, Zhai, Suoqiang, Han, Dongyi, Young, Wie-Yen, Guan, Min-Xin
• Format: Journal Article
• Language: English
• Published: United States 12.10.2007
• Subjects: 60 APPLIED LIFE SCIENCES; Aminoglycosides - pharmacology; China; Cyclooxygenase 1 - genetics; Cyclooxygenase 1 - metabolism; DNA; DNA, Mitochondrial - genetics; EVALUATION; EVOLUTION; Female; GENES; Hearing Loss - ethnology; Hearing Loss - genetics; Humans; Male; MITOCHONDRIA; Mutation; MUTATIONS; Pedigree; Polymorphism, Genetic; RNA, Ribosomal - chemistry; RNA, Ribosomal - genetics; RNA, Transfer - metabolism; Sequence Analysis, DNA; Serine - chemistry; STRUCTURAL CHEMICAL ANALYSIS; China

Mutations in mitochondrial DNA are one of the important causes of hearing loss. We report here the clinical, genetic, and molecular characterization of two Han Chinese pedigrees with maternally transmitted aminoglycoside-induced and nonsyndromic bilateral hearing loss. Clinical evaluation revealed t...