Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease

被引:17
作者
Escalera-Balsera, Alba [1 ]
Roman-Naranjo, Pablo [1 ]
Antonio Lopez-Escamez, Jose [1 ,2 ,3 ]
机构
[1] Univ Granada, Dept Genom Med, Otol & Neurotol Grp CTS 495, Ctr Pfizer,Junta Andalucia Genam & Invest Oncol, Granada 18016, Spain
[2] Hosp Univ Virgen de las Nieves, Inst Invest Biosanitaria, Dept Otolaryngol, Ibs GRANADA, Granada 18014, Spain
[3] Univ Granada, Dept Surg, Div Otolaryngol, Granada 18016, Spain
关键词
Meniere’ s disease; exome sequencing; sensorineural hearing loss; vestibular disorders; familial segregation; single nucleotide variant; rare variant; Mendelian disorders; inheritance pattern; INNER; IDENTIFICATION; HETEROGENEITY; TRANSCRIPTOME; GUIDELINES; HEARING; EXOME;
D O I
10.3390/genes11121414
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:1 / 17
页数:17
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