RT Journal Article
T1 Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's disease.
A1 Martín-Sierra, Carmen
A1 Gallego-Martinez, Alvaro
A1 Requena, Teresa
A1 Frejo, Lidia
A1 Batuecas-Caletrío, Angel
A1 Lopez-Escamez, Jose A
AB Autosomal dominant (AD) familial Meniere's disease (FMD) is a rare disorder involving the inner ear defined by sensorineural hearing loss, tinnitus and episodic vertigo. Here, we have identified two novel and rare heterozygous variants in the SEMA3D and DPT genes segregating with the complete phenotype that have variable expressivity in two pedigrees with AD-FMD. A detailed characterization of the phenotype within each family illustrates the clinical heterogeneity in the onset and progression of the disease. We also showed the expression of both genes in the human cochlea and performed in silico analyses of these variants. Three-dimensional protein modelling showed changes in the structure of the protein indicating potential physical interactions. These results confirm a genetic heterogeneity in FMD with incomplete penetrance and variable expressivity.
YR 2016
FD 2016-11-23
LK http://hdl.handle.net/10668/10628
UL http://hdl.handle.net/10668/10628
LA en
DS RISalud
RD Apr 7, 2025