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CLC number: R394; R764

On-line Access: 2019-01-22

Received: 2017-12-20

Revision Accepted: 2018-03-07

Crosschecked: 2018-08-14

Cited: 0

Clicked: 1630

Citations:  Bibtex RefMan EndNote GB/T7714


Ye Chen


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


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

Jing Zheng, Wen-fang Meng, Chao-fan Zhang, Han-qing Liu, Juan Yao, Hui Wang, Ye Chen, Min-xin Guan. New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population[J]. Journal of Zhejiang University Science B, 2019, 20(2): 164-169.

@article{title="New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population",
author="Jing Zheng, Wen-fang Meng, Chao-fan Zhang, Han-qing Liu, Juan Yao, Hui Wang, Ye Chen, Min-xin Guan",
journal="Journal of Zhejiang University Science B",
publisher="Zhejiang University Press & Springer",

%0 Journal Article
%T New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population
%A Jing Zheng
%A Wen-fang Meng
%A Chao-fan Zhang
%A Han-qing Liu
%A Juan Yao
%A Hui Wang
%A Ye Chen
%A Min-xin Guan
%J Journal of Zhejiang University SCIENCE B
%V 20
%N 2
%P 164-169
%@ 1673-1581
%D 2019
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.B1700185

T1 - New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population
A1 - Jing Zheng
A1 - Wen-fang Meng
A1 - Chao-fan Zhang
A1 - Han-qing Liu
A1 - Juan Yao
A1 - Hui Wang
A1 - Ye Chen
A1 - Min-xin Guan
J0 - Journal of Zhejiang University Science B
VL - 20
IS - 2
SP - 164
EP - 169
%@ 1673-1581
Y1 - 2019
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.B1700185

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.

中国人群中非综合征耳聋相关MARVELD2 (DFNB49)基因新单核苷酸多态性位点分析

创新点:发现MARVELD2突变频谱具有明显种族特异性.中国NSHL人群中的突变位点及频率不同于已报道的其他人群,并首次筛选到新致聋候选突变MARVELD2 c.730G>A.本研究有助于进一步阐释MARVELD2在NSHL中的作用.


Darkslateblue:Affiliate; Royal Blue:Author; Turquoise:Article


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[27]List of electronic supplementary materials

[28]Table S1 Primers used in PCR

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