Familial Meniere Disease

Gene: DPT

Amber List (moderate evidence)

DPT (dermatopontin)
EnsemblGeneIds (GRCh38): ENSG00000143196
EnsemblGeneIds (GRCh37): ENSG00000143196
OMIM: 125597, Gene2Phenotype
DPT is in 1 panel

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Currently only one family with variants in DPT associated with Familial Meniere's disease (PMID:27876815)
13 Mar 2018, 5:28 p.m.

Jose Antonio Lopez-Escamez (Center for Genomic GENyO)

Green List (high evidence)

A Spanish family consisted of three women with MD in the same generation with an autoimmune background. None of the patients in this family has a history of migraine. The initial proband was the younger sister (II: 9), who started with a right ear MD at 42 years of age, with a low-frequency fluctuating SNHL and tinnitus. Her follow-up was 19 years. She experienced a large number of attacks with no response to betahistine. At 8 years after onset, she was treated with intratympanic gentamicin in the right ear with an immediate relief of vertigo attacks. cVEMPs and bithermal caloric testing confirmed an ipsilateral vestibular areflexia with normal response in the left ear. Hearing levels were maintained in the right ear with a PTA of 25 dB. Autoimmune screening found anti-ribonucleoprotein antibodies, suggesting a concomitant immune disorder without criteria for systemic lupus erythematosus. The elder sister (II: 1) developed a bilateral MD at 51 years of age. She had a history of atrial fibrillation, high blood pressure and type II diabetes. She described episodes of vertigo, tinnitus and fluctuating hearing loss. Her bilateral SNHL showed a rapid progression in the left ear and later in the right ear involving all frequencies reaching a PTA of 70 and 55 dB, respectively, after 5 years of follow-up. She has been maintained on a low-sodium diet and high water intake for the past 2 years without new episodes of vertigo. The third sibling (II: 2) was a woman who started with MD at 55 years of age. She also had Sjögren syndrome, high blood pressure, type II diabetes and ischaemic cardiac syndrome. She presented initially with a bilateral diachronic SNHL affecting all frequencies that started in the right ear and advanced a few years later to include the left ear. She was treated with oral steroids producing a partial recovery of 25 dB HL in both ears. After 19 years of follow-up, hearing loss was permanent with a PTA of 85 and 48 dB in the right and left ears, respectively. Two additional members of this pedigree presented SNHL without any vestibular symptoms. The first was a sister of the three affected patients (II: 4) who developed a progressive bilateral, synchronic, low- to middle-frequency SNHL in her late fifties. She also had high blood pressure, type II diabetes and cardiac failure secondary to an aortic valve double lesion. After 11 years of follow-up, the hearing loss was permanent with a PTA of 45 and 60 dB in the right and left ears, respectively. The last patient was the second son of the elderly patient with MD (III: 2), who presented with sudden tinnitus with SNHL in the right ear and a PTA of 80 dB at 51 years of age. He was treated with oral steroids with no recovery. Currently, he has a permanent hearing loss, persistent tinnitus in the right ear and hyperacusis.
20 Feb 2018, 5:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Tags
watchlist
OMIM
125597
Clinvar variants
Variants in DPT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Mar 2018, Gel status: 2

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

External reviews collated. Internal clinical input. Ready for version 1.

13 Mar 2018, Gel status: 2

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

13 Mar 2018, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for DPT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Mar 2018, Gel status: 2

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Jan 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

DPT was added to Familial Meniere Disease panel. Sources: Literature

17 Jan 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

DPT was created by Eleanor Williams