Familial Meniere Disease

Gene: PRKCB

Green List (high evidence)

Single family with autoimmune background carry a missense mutation segregating the hearing loss phenotype in 3 males. The father of the proband only showed sudden SNHL with response to steroids. This gene has a tonotopic gene expression in the mouse cochlea that was demostrated in tectal cells (specific type of supporting cell)

Created: 20 Feb 2018, 5:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Phenotypes
Meniere disease

Publications

• PMID: 27329761

Variants in this GENE are reported as part of current diagnostic practice

Watchlist tag added

Created: 21 Mar 2018, 2:33 p.m.

Comment on list classification: Martin-Sierra et al 2016 (PMID:27329761) report a single family with two affected individuals and missense variant in PRKCB. Several relatives presented a partial syndrome with episodic vestibular symptoms, but no hearing loss (III-5, III-8), and they did not present the novel PRKCB variant. Publication demonstrates a tonotopic gradient for PKCB II expression in tectal cells in the rat cochlea.

Created: 21 Mar 2018, 2:33 p.m.

Added tag of multifactorial in response to reviewer comments.

Created: 14 Feb 2018, 2:02 p.m.

Comment on publications: Added publications as recommended as reviewers.

Created: 14 Feb 2018, 1:47 p.m.

Comment on mode of inheritance: Mode of inheritance updated after reviewer feedback.

Created: 14 Feb 2018, 1:38 p.m.

Red List (low evidence)

incomplete penetrance, small family (2 affected individuals), suggestion of additional genetic or environmental factors contributed to this vestibular phenotype

Created: 28 Jan 2018, 9:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• 27329761

Red List (low evidence)

single small family described

Created: 24 Jan 2018, 10:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

• PubMed: 25305078