88 Variants in mitochondrial tRNAs may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G and C1494T mutations in Chinese families with hearing loss

Mitochondrion ◽  
2007 ◽  
Vol 7 (6) ◽  
pp. 430
Author(s):  
Min-Xin Guan ◽  
Wie-Yen Young ◽  
Lidong Zhao ◽  
Yaping Qian ◽  
Ronghua Li ◽  
...  
Keyword(s):  
Hearing Loss ◽  
12S Rrna ◽  
Chinese Families ◽  
Phenotypic Manifestation

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

Concurrent Hearing and Genetic Screening of 18 001 Neonates with Hearing Diagnose in Nantong, China

2021 ◽  
Author(s):  
Jianhua Chen ◽  
Qingwen Zhu ◽  
Jingyu Li ◽  
Jing Wang ◽  
Wenjun Bian ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Early Detection ◽  
Genetic Screening ◽  
Late Onset ◽  
Gene Mutations ◽  
Hearing Screening ◽  
12S Rrna ◽  
Drug Induced ◽  
Dna Test ◽  
Deafness Gene

Abstract Objectives: Concurrent hearing and genetic screening of newborns is expected to play an important role in the early detection and diagnosis of congenital deafness, which triggers an intervention, as well as in predicting late-onset and progressive hearing loss and identifying individuals who are at risk of drug-induced hearing loss (HL).Methods: A Deafness Gene Variant Detection Array Kit covering fifteen variants in four genes was used to screen for deafness genes in 18001 infants.Results: A total of 108 neonates did not pass the second hearing screening. In addition, 912 (5.07%) screened positive for deafness-associated variants, including 78 (0.43%) genetically referred and 834 (4.63%) genetic deafness-associated variant carriers. Of the 912 screened positive cases, 880 passed the hearing screening, and 32 failed. A total of 62 (0.34%) cases carried the mtDNA 12S rRNA variants. A total of 108 cases did not pass the hearing screening and underwent a hearing diagnostic examination. An expanded DNA test identified 17 patients who possessed deafness gene mutations, increasing the detection rate to 5.16%.Conclusion: Early detection, diagnosis, and interventions are necessary for newborns who are susceptible to deafness. A good strategy is to use a small panel to quickly screen all subjects and then apply an extended panel to study the cause of deafness in affected patients.

Whole Exome Sequencing of Six Chinese Families With Hereditary Non-Syndromic Hearing Loss: A Genetic Etiology Study

2020 ◽  
Author(s):  
Pengfei Liang ◽  
Fengping Chen ◽  
Shujuan Wang ◽  
Qiong Li ◽  
Wei Li ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sanger Sequencing ◽  
Large Scale ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Chinese Families ◽  
Whole Exome ◽  
Syndromic Hearing Loss

Abstract Background: Hereditary non-syndromic hearing loss (NSHL) has a high genetic heterogeneity with >152 genes identified as associated molecular causes. The present study aimed to detect the possible damaging variants of the deaf probands from six unrelated Chinese families.Methods: After excluding the mutations in the most common genes, GJB2 and SLC26A4, 12 probands with prelingual deafness and autosomal recessive inheritance were evaluated by whole-exome sequencing (WES). All the candidate variants were verified by Sanger sequencing in all patients and their parents.Results: Biallelic mutations were identified in all deaf patients. Among these six families, 10 potentially causative mutations, including 3 reported and 7 novel mutations, in 3 different deafness-associated autosomal recessive (DFNB) genes (MYO15A, COL11A2, and CDH23) were identified. The mutations in MYO15A were frequent with 7/10 candidate variants. Sanger sequencing confirmed that these mutations segregated with the hearing loss of each family.Conclusions: Next-generation sequencing (NGS) approach becomes more cost-effective and efficient when analyzing large-scale genes compared to the conventional polymerase chain reaction-based Sanger sequencing, which is often used to screen common deafness-related genes. The current findings further extend the mutation spectrum of hearing loss in the Chinese population, which has a positive significance for genetic counseling.

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