Ontology highlight
ABSTRACT:
SUBMITTER: Martin-Sierra C
PROVIDER: S-EPMC5255954 | biostudies-literature | 2017 Feb
REPOSITORIES: biostudies-literature
Martín-Sierra Carmen C Gallego-Martinez Alvaro A Requena Teresa T Frejo Lidia L Batuecas-Caletrío Angel A Lopez-Escamez Jose A JA
European journal of human genetics : EJHG 20161123 2
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 ...[more]