scholarly journals Mutations in the Mitochondrial tRNA Ser(UCN) and in the GJB2 (Connexin 26) Gene Are Not Modifiers of the Age at Onset or Severity of Hearing Loss in Spanish Patients with the 12S rRNA A1555G Mutation

2000 ◽  
Vol 66 (4) ◽  
pp. 1465-1467 ◽  
Author(s):  
N. López-Bigas ◽  
R. Rabionet ◽  
E. Martinez ◽  
O. Bravo ◽  
J. Girons ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Age At Onset ◽  
Connexin 26 ◽  
12S Rrna ◽  
Mitochondrial Trna ◽  
A1555g Mutation

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 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

scholarly journals Identification of a mitochondrial 12S rRNA A1555G mutation causing aminoglycoside-induced deafness in a large Thai family

2017 ◽  
Vol 9 (2) ◽  
pp. 211-215
Author(s):  
Pongsathorn Chaiyasap ◽  
Chalurmpon Srichomthong ◽  
Siraprapa Tongkobpetch ◽  
Kanya Suphapeetiporn ◽  
Vorasuk Shotelersuk
Keyword(s):  
Hearing Loss ◽  
Molecular Techniques ◽  
12S Rrna ◽  
Thai Population ◽  
Mitochondrial Mutation ◽  
Medical Practitioners ◽  
A1555g Mutation ◽  
Raising Awareness ◽  
Mitochondrial 12S Rrna ◽  
Mutation Analyses

Abstract Background Hearing loss is among the most frequent sensory disorders. Preventable causes include medications given to genetically susceptible individuals. Several families around the world with an A1555G mitochondrial mutation who became profoundly deaf after receiving aminoglycosides have been described. However, none has been reported in Thailand. Objectives To identify the cause of hearing loss of a large Thai family with 11 members who reportedly turned deaf after receiving antibiotics. Methods We obtained blood samples from 5 members; 4 of whom had hearing loss. Mutation analyses were performed using molecular techniques including polymerase chain reaction, Sanger sequencing, and restriction fragment length polymorphism. Results All 4 affected members were found to harbor the same A1555G mitochondrial mutation, while the unaffected had only the wild-type A. Conclusions We have identified the mitochondrial mutation leading to aminoglycoside-induced hearing loss in a Thai population. Raising awareness for medical practitioners of this genetic susceptibility in Thailand is warranted. Avoidance of certain medications in these individuals would prevent this acquired permanent hearing loss.

scholarly journals Screening for deafness-associated mitochondrial 12S rRNA mutations by using a multiplex allele-specific PCR method

2020 ◽  
Vol 40 (5) ◽  
Author(s):  
Yu Ding ◽  
Jianyong Lang ◽  
Junkun Zhang ◽  
Jianfeng Xu ◽  
Xiaojiang Lin ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Age At Onset ◽  
12S Rrna ◽  
Specific Pcr ◽  
Functional Variants ◽  
Sanger Sequence ◽  
Allele Specific ◽  
Mitochondrial 12S Rrna ◽  
Pcr Method ◽  
Allele Specific Pcr

Abstract Mitochondrial 12S rRNA A1555G and C1494T mutations are the major contributors to hearing loss. As patients with these mutations are sensitive to aminoglycosides, mutational screening for 12S rRNA is therefore recommended before the use of aminoglycosides. Most recently, we developed a novel multiplex allele-specific PCR (MAS-PCR) that can be used for detecting A1555G and C1494T mutations. In the present study, we employed this MAS-PCR to screen the 12S rRNA mutations in 500 deaf patients and 300 controls from 5 community hospitals. After PCR and electrophoresis, two patients with A1555G and one patient with C1494T were identified, this was consistent with Sanger sequence results. We further traced the origin of three Chinese pedigrees. Clinical evaluation revealed variable phenotypes of hearing loss including severity, age at onset and audiometric configuration in these patients. Sequence analysis of the mitochondrial genomes from matrilineal relatives suggested the presence of three evolutionarily conserved mutations: tRNACys T5802C, tRNALys A8343G and tRNAThr G15930A, which may result the failure in tRNAs metabolism and lead to mitochondrial dysfunction that was responsible for deafness. However, the lack of any functional variants in GJB2, GJB3, GJB6 and TRMU suggested that nuclear genes may not play active roles in deafness expression. Hence, aminoglycosides and mitochondrial genetic background may contribute to the clinical expression of A1555G/C1494T-induced deafness. Our data indicated that the MAS-PCR was a fast, convenience method for screening the 12S rRNA mutations, which was useful for early detection and prevention of mitochondrial deafness.

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