A novel genetic variant associated with benign paroxysmal positional vertigo within the LOXL1.,Molecular Genetics & Genomic Medicine

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A novel genetic variant associated with benign paroxysmal positional vertigo within the LOXL1.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-08-22 , DOI: 10.1002/mgg3.1469
Mingzhu Deng ₁ , Chen Liu ₁ , Weiqing Jiang ₂ , Fei Wang ₂ , Juan Zhou ₃ , Dong Wang ₃ , Yonggang Wang _{1,

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Affiliation

Benign paroxysmal positional vertigo (BPPV) is a common, self‐limited, and favorable prognostic peripheral vestibular disorder. BPPV is transmitted in an autosomal dominant fashion, but most cases occur sporadically. Little research has been reported regarding the mutation spectrum of sporadic BPPV in a large cohort. This study attempted to identify the causative candidate variants associated with BPPV in VDR, LOXL1, and LOXL1‐AS1.

中文翻译：

与LOXL1内良性阵发性位置性眩晕相关的新型遗传变异。

良性阵发性位置性眩晕（BPPV）是一种常见的，自我限制且有利的预后性外周前庭疾病。BPPV以常染色体显性方式传播，但大多数情况偶尔发生。关于大型人群中散发性BPPV突变谱的报道很少。本研究试图确定与VDR，LOXL1和LOXL1 - AS1中的BPPV相关的致病性候选变异。

更新日期：2020-10-12

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