Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation

• Published in: Biochemical and biophysical research communications Vol. 340; no. 2; pp. 583 - 588
• Main Authors: Wang, Qiuju, Li, Qing-Zhong, Han, Dongyi, Zhao, Yali, Zhao, Lidong, Qian, Yaping, Yuan, Hu, Li, Ronghua, Zhai, Suoqiang, Young, Wie-Yen, Guan, Min-Xin
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 10.02.2006
• Subjects: 60 APPLIED LIFE SCIENCES; Adolescent; Adult; Aged, 80 and over; Aminoglycoside ototoxicity; Aminoglycosides - adverse effects; Child; Child, Preschool; China; Chinese; Cytosine; Diagnosis, Differential; DNA; DNA, Mitochondrial - genetics; Female; Haplotypes; Hearing loss; Hearing Loss - chemically induced; Hearing Loss - diagnosis; Hearing Loss - genetics; Hearing Loss - physiopathology; Humans; Male; Middle Aged; Mitochondrial 12S rRNA; Mutation; MUTATIONS; Nuclear background; PATHOGENESIS; Pedigree; Penetrance; PHENOTYPE; Point Mutation; RNA, Ribosomal - genetics; Sequence Analysis, DNA; STRUCTURAL CHEMICAL ANALYSIS; Thymine; China; Haplotypes; Mitochondrial 12S rRNA; Aminoglycoside ototoxicity; Nuclear background; Penetrance; Chinese; Mutation; Hearing loss

We report here the clinical, genetic, and molecular characterization of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Five of nine matrilineal relatives had aminoglycoside-induced hearing loss. These matrilineal relatives exhibited variable severity and...