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Targeted next‐generation sequencing of deaf patients from Southwestern China by Li, Yunlong (author);Su, Jie (author);Zhang, Jingman (author);Pei, Jiahong (author);Li, Dongmei (author);Zhang, Yinhong (author);Li, Jingyu (author);Chen, Menglang (author);Zhu, Baosheng (author) is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Targeted next‐generation sequencing of deaf patients from Southwestern China about?

## Abstract ## Background Targeted next‐generation sequencing is an efficient tool to identify pathogenic mutations of hereditary deafness. The molecular pathology of deaf patients in southwestern China is not fully understood. ## Methods In this study, targeted next‐generation sequencing of 127 deafness genes was performed on 84 deaf patients. They were not caused by common mutations of GJB2 gene, including c.35delG, c.109 G>A, c.167delT, c.176\_191del16, c.235delC and c.299\_300delAT. ## Results In the cohorts of 84 deaf patients, we did not find any candidate pathogenic variants in 14 deaf patients (16.7%, 14/84). In other 70 deaf patients (83.3%, 70/84), candidate pathogenic variants were identified in 34 genes. Of these 70 deaf patients, the percentage of “Solved” and “Unsolved” patients was 51.43% (36/70) and 48.57% (34/70), respectively. The most common causative genes were SLC26A4 (12.9%, 9/70), MT‐RNR1 (11.4%, 8/70), and MYO7A (2.9%, 2/70) in deaf patients. In “Unsolved” patients, possible pathogenic variants were most found in SLC26A4 (8.9%, 3/34), MYO7A (5.9%, 2/34), OTOF (5.9%, 2/34), and PDZD7 (5.9%, 2/34) genes. Interesting, several novel recessive pathogenic variants

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Author

Li, Yunlong (author);Su, Jie (author);Zhang, Jingman (author);Pei, Jiahong (author);Li, Dongmei (author);Zhang, Yinhong (author);Li, Jingyu (author);Chen, Menglang (author);Zhu, Baosheng (author)

Publisher

John Wiley and Sons Inc.

Published

2021

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)