Version 1
: Received: 28 October 2024 / Approved: 29 October 2024 / Online: 30 October 2024 (10:31:15 CET)
How to cite:
Sun, Y.; Chen, W.; Jin, Y.; Liu, X.; Zhang, Q.; Xiong, Y.; Hu, Y.; He, H. Next Generation Sequencing of Chinese Children with Congential Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes. Preprints2024, 2024102339. https://doi.org/10.20944/preprints202410.2339.v1
Sun, Y.; Chen, W.; Jin, Y.; Liu, X.; Zhang, Q.; Xiong, Y.; Hu, Y.; He, H. Next Generation Sequencing of Chinese Children with Congential Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes. Preprints 2024, 2024102339. https://doi.org/10.20944/preprints202410.2339.v1
Sun, Y.; Chen, W.; Jin, Y.; Liu, X.; Zhang, Q.; Xiong, Y.; Hu, Y.; He, H. Next Generation Sequencing of Chinese Children with Congential Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes. Preprints2024, 2024102339. https://doi.org/10.20944/preprints202410.2339.v1
APA Style
Sun, Y., Chen, W., Jin, Y., Liu, X., Zhang, Q., Xiong, Y., Hu, Y., & He, H. (2024). Next Generation Sequencing of Chinese Children with Congential Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes. Preprints. https://doi.org/10.20944/preprints202410.2339.v1
Chicago/Turabian Style
Sun, Y., Yao Hu and Haixia He. 2024 "Next Generation Sequencing of Chinese Children with Congential Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes" Preprints. https://doi.org/10.20944/preprints202410.2339.v1
Abstract
Hearing loss (HL) is the most common disorder in newborns with a highly heterogeneous genetic background. Despite significant progress in screening and identifying genes related with congential hearing loss, there are still candidate genes implicated in HL that remain undiscovered. We investigated HL in 43 China families that segregate bilateral sensorineural via whole-exome sequencing(WES) and Sanger sequencing. Variants were found in 10 known non-syndromic hearing loss (NSHL) genes, 5 known syndromic hearing loss(SHL) genes and a candidate HL genes ATP7B. RNA sequencing reveals ATP7B mRNA expression of in developing and adult cochlea. Immunohistochemistry of the adult mouse cochlear tissue revealed prominent expression of ATP7B in the organ of Corti and the spiral ganglion neuron. Overall, we propose a new candidate genes ATP7B for congential hearing loss and novel variants in known HL genes, which expand our understanding of the etiology of HL.
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
