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
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Abstract
Variations in mitochondrial genome have been found
to be associated with hearing loss. Of these, the mitochondrial
12S rRNA and tRNASer(UCN) are the hot-spots for
pathogenic variants associated with deafness. To understand
the putative role of mitochondrial DNA (mtDNA)
variants in hearing loss, we recently screened the variants
in mitochondrial genomes in patients with deafness from
the Hangzhou area of Zhejiang Province, People’s Republic
of China (PRC). In this study, we describe a maternallyinherited
Han Chinese family with high penetrance of
hearing loss, notably, the penetrance of hearing loss in this
family were 80.0 and 40.0%, when the aminoglycoside
was included or excluded. Three matrilineal relatives in
this pedigree exhibited different levels of hearing loss with
different age at onset. In addition, sequence analysis of
the complete mitochondrial genome showed the presence
of the well-known C1494T pathogenic variant in the 12S
rRNA gene and the G7444A pathogenic variant in the COI/
tRNASer(UCN). The C1494T anomaly had been reported to
be a pathogenic mutation associated with aminoglycosideinduced
and nonsyndromic hearing loss (AINHL), while
the G7444A was considered as a secondary mutation associated
with deafness. However, the lack of functional
variants in GJB2 and TRMU genes suggested that nuclear
modified genes may not play important roles in deafness
expression. Thus, the combination of G7444A and C1494T
pathogenic variants in the mitochondrial genome may
account for the high penetrance of hearing loss in this
Chinese family.
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