Full Text:   <2942>

Summary:  <1677>

Suppl. Mater.: 

CLC number: R394; R764

On-line Access: 2024-08-27

Received: 2023-10-17

Revision Accepted: 2024-05-08

Crosschecked: 2018-08-14

Cited: 0

Clicked: 5204

Citations:  Bibtex RefMan EndNote GB/T7714

 ORCID:

Ye Chen

https://orcid.org/0000-0003-3671-2504

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Journal of Zhejiang University SCIENCE B 2019 Vol.20 No.2 P.164-169

http://doi.org/10.1631/jzus.B1700185


New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population


Author(s):  Jing Zheng, Wen-fang Meng, Chao-fan Zhang, Han-qing Liu, Juan Yao, Hui Wang, Ye Chen, Min-xin Guan

Affiliation(s):  Division of Medical Genetics and Genomics, the Children’s Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China; more

Corresponding email(s):   yechency@zju.edu.cn

Key Words:  Chinese population, MARVELD2, Non-Syndromic Hearing Loss, SNP variants



Abstract: 
non-Syndromic Hearing Loss (NSHL) is a common defect in humans. Variants of MARVELD2 at the DFNB49 locus have been shown to cause bilateral, moderate to profound NSHL. However, the role of MARVELD2 in NSHL susceptibility in the chinese population has not been studied. Here we conducted a case-control study in an eastern chinese population to profile the spectrum and frequency of MARVELD2 variants, as well as the association of MARVELD2 gene variants with NSHL. Our results showed that variants identified in the chinese population are significantly different from those reported in Slovak, Hungarian, and Czech Roma, as well as Pakistani families. We identified 11 variants in a cohort of 283 NSHL cases. Through Sanger sequencing and bioinformatics analysis, we found that c.730G>A variant has detrimental effects in the eastern chinese population, and may have relatively high correlation with NSHL pathogenicity.

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