Balkan Journal of Medical Genetics

THE MITOCHONDRIAL COI/tRNASER(UCN) G7444A MUTATION MAY BE ASSOCIATED WITH HEARING IMPAIRMENT IN A HAN CHINESE FAMILY
Ding Y1,2, Xia B-H3, Teng Y-S2,4, Zhuo G-C1,2, Leng J-H1,2,*
*Corresponding Author: Dr. Jian-Hang Leng, Central Laboratory, Hangzhou First People’s Hospital, Nanjing Medical University, Huansha Road 261, Hangzhou, People’s Republic of China. Tel./Fax: +86-0571-87065701. E-mail: lengjh5@163.com Y. Ding and B-H. Xia contributed equally for this study.
page: 43

INTRODUCTION

Hearing loss is one of the most common human health problems, affecting one in 700-1000 newborns [1]. Deafness can be caused by gene alternations and environmental factors including the ototoxic drugs such as aminoglycoside antibiotics. Of the hereditary factors, variants in mitochondrial DNA (mtDNA), especially in 12S rRNA and tRNASer(UCN) genes, are the important causes of sensorineural hearing loss [2]; among these variants, the homo-plasmic A1555G and C1494T pathogenic variants in the highly conserved A-site of 12S rRNA has been associated with both aminoglycoside-induced and nonsyndromic hearing loss (AINHL) in many families worldwide [3-6]. Moreover, the A7445G, 7472insC, T7510C and T7511C pathogenic variants have been identified in the tRNASer(UCN) gene [7]. However, matrilineal relatives within and among families carrying these mutations exhibited a wide range of penetrance, severity and age at onset in hearing loss [8-9], moreover, functional analysis of the cell lines derived from the matrilineal relatives carrying these primary mutations demonstrated that the A1555G or C1494T led to mild mitochondrial dysfunction and sensitivity to aminoglycosides [10-11]. These findings strongly indicated that the A1555G or C1494T pathogenic variants were insufficient to produce enough clinical phenotypes, thus, other factors, such as aminoglycosides, nuclear genes or mitochondrial haplotypes may contribute to the clinical expression of deafness-associated mtDNA variants. With the aim of elucidating the molecular basis of hearing loss, an extensive mutational screening for mitochondrial 12S rRNA and tRNASer(UCN) genes were performed in the Hangzhou area of Zhejiang Province, People’s Republic of China (PRC). In this report, we describe a Han Chinese family with maternally-inherited AINHL. Sequence analysis of the mitochondrial genome showed the presence of C1494T and G7444A pathogenic variants.

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