RT Journal Article
T1 Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease
A1 Escalera-Balsera, Alba
A1 Roman-Naranjo, Pablo
A1 Lopez-Escamez, Jose Antonio
K1 Meniere’s disease
K1 Exome sequencing
K1 Sensorineural hearing loss
K1 Vestibular disorders
K1 Familial segregation
K1 Single nucleotide variant
K1 Rare variant
K1 Mendelian disorders
K1 Inheritance pattern
K1 Enfermedad de Meniere
K1 Secuenciación del exoma
K1 Pérdida auditiva sensorineural
K1 Patrón de herencia
AB 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.
PB MDPI
YR 2020
FD 2020-11-27
LK http://hdl.handle.net/10668/4057
UL http://hdl.handle.net/10668/4057
LA en
NO Escalera-Balsera A, Roman-Naranjo P, Lopez-Escamez JA. Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease. Genes. 2020 Nov 27;11(12):1414
DS RISalud
RD Apr 11, 2025