scholarly journals Cosegregation of the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss

2005 ◽  
Vol 138A (2) ◽  
pp. 133-140 ◽  
Author(s):  
Huijun Yuan ◽  
Yaping Qian ◽  
Yanjun Xu ◽  
Juyang Cao ◽  
Linna Bai ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Chinese Family ◽  
12S Rrna ◽  
Nonsyndromic Hearing Loss ◽  
Mitochondrial Coi ◽  
A1555g Mutation

Unique penetrance of hearing loss in a five-generation Chinese family with the mitochondrial 12S rRNA 1555A > G mutation

2011 ◽  
Vol 131 (9) ◽  
pp. 970-975 ◽  
Author(s):  
Meichao Men ◽  
Lu Jiang ◽  
Honghan Wang ◽  
Yalan Liu ◽  
Zhengmao Hu ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Chinese Family ◽  
12S Rrna ◽  
Mitochondrial 12S Rrna

Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation

2005 ◽  
Vol 328 (4) ◽  
pp. 1244-1251 ◽  
Author(s):  
Wie-Yen Young ◽  
Lidong Zhao ◽  
Yaping Qian ◽  
Qiuju Wang ◽  
Ning Li ◽  
...  
Keyword(s):  
Hearing Loss ◽  
12S Rrna ◽  
Chinese Families ◽  
A1555g Mutation ◽  
Mitochondrial 12S Rrna

scholarly journals A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

PLoS ONE ◽  
2017 ◽  
Vol 12 (5) ◽  
pp. e0178384 ◽  
Author(s):  
Zhijie Niu ◽  
Yong Feng ◽  
Lingyun Mei ◽  
Jie Sun ◽  
Xueping Wang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Frameshift Mutation ◽  
Chinese Family ◽  
Nonsyndromic Hearing Loss ◽  
Rare Form

scholarly journals The mitochondrial COI/tRNASER(UCN) G7444A mutation may be associated with hearing impairment in a Han Chinese family

2017 ◽  
Vol 20 (2) ◽  
pp. 43-49
Author(s):  
Y Ding ◽  
B-H Xia ◽  
Y-S Teng ◽  
G-C Zhuo ◽  
J-H Leng
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Genome ◽  
Age At Onset ◽  
Han Chinese ◽  
Pathogenic Variant ◽  
Chinese Family ◽  
12S Rrna ◽  
Pathogenic Variants ◽  
Functional Variants ◽  
High Penetrance

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 maternally-inherited 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 aminoglycoside-induced 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.

Mitochondrial 12S rRNA A1555G mutation associated with nonsyn-dromic hearing loss in twenty-five Han Chinese pedigrees

2013 ◽  
Vol 35 (1) ◽  
pp. 62-72 ◽  
Author(s):  
Guang-Hua PENG ◽  
Bin-Jiao ZHENG ◽  
Fang FANG ◽  
Yue WU ◽  
Ling-Zhi LIANG ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Han Chinese ◽  
12S Rrna ◽  
A1555g Mutation ◽  
Mitochondrial 12S Rrna
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