家族性梅尼埃病(FMD)是一种罕见的内耳疾病,其特征是与感觉神经性听力损失相关的发作性眩晕,耳鸣和/或听觉丰满。我们进行了系统评价,以发现分离FMD中罕见变异的测序研究,以获得支持MD候选基因的证据。在评估了检索到的记录的质量之后,选择了8项研究进行定量合成。这些文章描述了11个基因中的20个单核苷酸变体(SNV)(FAM136A,DTNA,PRKCB,COCH,DPT,SEMA3D,STRC,HMX2,TMEM55B,OTOG和LSAMP),他们中的大多数都属于单一家族-OTOG基因除外。此外,我们分析了每种SNV的致病性,并将其等位基因频率与参考数据集进行了比较,以评估其在FMD发病机理中的作用。通过从不同的数据库中检索这些基因中的基因表达数据,我们可以根据它们在神经或内耳组织中的基因表达对它们进行分类。最后,我们评估了遗传模式,以得出结论哪些基因在FMD中表现出常染色体显性遗传(AD)或常染色体隐性遗传(AR)。
Familial Meniere Disease (FMD) is a rare inner ear disorder characterized by episodic vertigo associated with sensorineural hearing loss, tinnitus and/or aural fullness. We conducted a systematic
review to find sequencing studies segregating rare variants in FMD to obtain evidence to support candidate genes for MD. After evaluating the quality of the retrieved records, eight studies were selected to carry out a quantitative synthesis. These articles described 20 single nucleotide variants (SNVs) in 11 genes (FAM136A, DTNA, PRKCB, COCH, DPT, SEMA3D, STRC, HMX2, TMEM55B, OTOG and LSAMP), most of them in singular families-the exception being the OTOG gene. Furthermore, we analyzed the pathogenicity of each SNV and compared its allelic frequency with reference datasets to evaluate its role in the pathogenesis of FMD. By retrieving gene expression data in these genes from different databases, we could classify them according to their gene expression in neural or inner ear tissues. Finally, we evaluated the pattern of inheritance to conclude which genes show an autosomal dominant (AD) or autosomal recessive (AR) inheritance in FMD.