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Article

Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's disease.

European journal of human genetics : EJHG - 1 Feb 2017

Martín-Sierra Carmen, Gallego-Martinez Alvaro, Requena Teresa, Frejo Lidia, Batuecas-Caletrío Angel, Lopez-Escamez Jose A

Abstract excerpt

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...

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Identifiers

PMID: 27876815
DOI: 10.1038/ejhg.2016.154
PMCID: PMC5255954

Genes

DPT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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