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

Jing ZHENG; Wen-Fang MENG; Chao-Fan ZHANG; Han-Qing LIU; Juan YAO; Hui WANG; Ye CHEN; Min-Xin GUAN

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

Author: Jing ZHENG ¹ ; Wen-Fang MENG ¹ ; Chao-Fan ZHANG ² ; Han-Qing LIU ² ; Juan YAO ³ ; Hui WANG ³ ; Ye CHEN ¹ ; Min-Xin GUAN ¹
Author Information

1. Division of Medical Genetics and Genomics, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China.
2. Institute of Genetics, Zhejiang University, Hangzhou 310058, China.
3. Attardi Institute of Mitochondrial Biomedicine, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou 325035, China.
Publication Type:Journal Article
Keywords: Chinese population; MARVELD2; Non-Syndromic Hearing Loss; SNP variants
MeSH: Case-Control Studies; Computational Biology; Hearing Loss/genetics*; Humans; MARVEL Domain Containing 2 Protein/genetics*; Polymorphism, Single Nucleotide
From: Journal of Zhejiang University. Science. B 2019;20(2):164-169
CountryChina
Language:English
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.