Genetic Aspects of Familial Ménière's Disease

Diana Arweiler-Harbeck, Bernhard Horsthemke, Klaus Jahnke, Hans Christian Hennies

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

OBJECTIVE: Ménière's disease (MD) is a chronic illness characterized by sensorineural hearing loss, recurring vertigo attacks, and tinnitus. It is possibly of multifactorial origin, although several families with autosomal dominant inheritance and reduced penetrance have been described. To elucidate the genetic basis of MD, patients and their families were investigated, and linkage analysis was performed.

STUDY DESIGN: Retrospective and prospective family survey.

PATIENTS AND METHODS: Of 193 patients diagnosed with MD, 37 patients could be ascertained as having a positive family history, which means a frequency of 19.2%. Nineteen families with 81 members (52 positive for MD and 29 negative for MD) were investigated according to the guidelines of the Committee on Hearing and Equilibrium of the American Academy of Otolaryngology. Blood samples were obtained, and a genome-wide linkage analysis was performed with microsatellite markers.

RESULTS: Age of onset diminished in subsequent generations. We found suggestive evidence of linkage assuming heterogeneity of MD on chromosome 5 with a maximum multipoint logarithm of the odds of linkage (LOD) score of 1.9 for 13 of 17 families and a potential region on chromosome 12 for 8 families. Of the 81 subjects, 27 (33.3%) reported MD only, 25 (30.9%) reported migraine and MD, and 7 (8.6%) reported migraine only.

CONCLUSION: Family trees suggest an autosomal dominant inheritance with reduced penetrance and anticipation. A probable candidate region for MD was located on chromosome 5.

Original languageEnglish
Pages (from-to)695-700
Number of pages6
JournalOtology and Neurotology
Volume32
Issue number4
DOIs
Publication statusPublished - Jun 2011
Externally publishedYes

Fingerprint

Chromosomes, Human, Pair 5
Penetrance
Migraine Disorders
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 8
Tinnitus
Sensorineural Hearing Loss
Vertigo
Otolaryngology
Pedigree
Age of Onset
Microsatellite Repeats
Hearing
Chronic Disease
Genome
Guidelines
Surveys and Questionnaires

Cite this

Arweiler-Harbeck, Diana ; Horsthemke, Bernhard ; Jahnke, Klaus ; Hennies, Hans Christian. / Genetic Aspects of Familial Ménière's Disease. In: Otology and Neurotology. 2011 ; Vol. 32, No. 4. pp. 695-700.
@article{211b4c57323b4f6686dd6d600bb2d8fe,
title = "Genetic Aspects of Familial M{\'e}ni{\`e}re's Disease",
abstract = "OBJECTIVE: M{\'e}ni{\`e}re's disease (MD) is a chronic illness characterized by sensorineural hearing loss, recurring vertigo attacks, and tinnitus. It is possibly of multifactorial origin, although several families with autosomal dominant inheritance and reduced penetrance have been described. To elucidate the genetic basis of MD, patients and their families were investigated, and linkage analysis was performed.STUDY DESIGN: Retrospective and prospective family survey.PATIENTS AND METHODS: Of 193 patients diagnosed with MD, 37 patients could be ascertained as having a positive family history, which means a frequency of 19.2{\%}. Nineteen families with 81 members (52 positive for MD and 29 negative for MD) were investigated according to the guidelines of the Committee on Hearing and Equilibrium of the American Academy of Otolaryngology. Blood samples were obtained, and a genome-wide linkage analysis was performed with microsatellite markers.RESULTS: Age of onset diminished in subsequent generations. We found suggestive evidence of linkage assuming heterogeneity of MD on chromosome 5 with a maximum multipoint logarithm of the odds of linkage (LOD) score of 1.9 for 13 of 17 families and a potential region on chromosome 12 for 8 families. Of the 81 subjects, 27 (33.3{\%}) reported MD only, 25 (30.9{\%}) reported migraine and MD, and 7 (8.6{\%}) reported migraine only.CONCLUSION: Family trees suggest an autosomal dominant inheritance with reduced penetrance and anticipation. A probable candidate region for MD was located on chromosome 5.",
keywords = "Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Female, Genetic Linkage, Humans, Male, Meniere Disease, Middle Aged, Pedigree, Prospective Studies, Retrospective Studies, Vertigo, Journal Article, Research Support, Non-U.S. Gov't",
author = "Diana Arweiler-Harbeck and Bernhard Horsthemke and Klaus Jahnke and Hennies, {Hans Christian}",
year = "2011",
month = "6",
doi = "10.1097/MAO.0b013e318216074a",
language = "English",
volume = "32",
pages = "695--700",
journal = "Otology and Neurotology",
issn = "1531-7129",
publisher = "Lippincott Williams and Wilkins",
number = "4",

}

Arweiler-Harbeck, D, Horsthemke, B, Jahnke, K & Hennies, HC 2011, 'Genetic Aspects of Familial Ménière's Disease', Otology and Neurotology, vol. 32, no. 4, pp. 695-700. https://doi.org/10.1097/MAO.0b013e318216074a

Genetic Aspects of Familial Ménière's Disease. / Arweiler-Harbeck, Diana; Horsthemke, Bernhard; Jahnke, Klaus; Hennies, Hans Christian.

In: Otology and Neurotology, Vol. 32, No. 4, 06.2011, p. 695-700.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Genetic Aspects of Familial Ménière's Disease

AU - Arweiler-Harbeck, Diana

AU - Horsthemke, Bernhard

AU - Jahnke, Klaus

AU - Hennies, Hans Christian

PY - 2011/6

Y1 - 2011/6

N2 - OBJECTIVE: Ménière's disease (MD) is a chronic illness characterized by sensorineural hearing loss, recurring vertigo attacks, and tinnitus. It is possibly of multifactorial origin, although several families with autosomal dominant inheritance and reduced penetrance have been described. To elucidate the genetic basis of MD, patients and their families were investigated, and linkage analysis was performed.STUDY DESIGN: Retrospective and prospective family survey.PATIENTS AND METHODS: Of 193 patients diagnosed with MD, 37 patients could be ascertained as having a positive family history, which means a frequency of 19.2%. Nineteen families with 81 members (52 positive for MD and 29 negative for MD) were investigated according to the guidelines of the Committee on Hearing and Equilibrium of the American Academy of Otolaryngology. Blood samples were obtained, and a genome-wide linkage analysis was performed with microsatellite markers.RESULTS: Age of onset diminished in subsequent generations. We found suggestive evidence of linkage assuming heterogeneity of MD on chromosome 5 with a maximum multipoint logarithm of the odds of linkage (LOD) score of 1.9 for 13 of 17 families and a potential region on chromosome 12 for 8 families. Of the 81 subjects, 27 (33.3%) reported MD only, 25 (30.9%) reported migraine and MD, and 7 (8.6%) reported migraine only.CONCLUSION: Family trees suggest an autosomal dominant inheritance with reduced penetrance and anticipation. A probable candidate region for MD was located on chromosome 5.

AB - OBJECTIVE: Ménière's disease (MD) is a chronic illness characterized by sensorineural hearing loss, recurring vertigo attacks, and tinnitus. It is possibly of multifactorial origin, although several families with autosomal dominant inheritance and reduced penetrance have been described. To elucidate the genetic basis of MD, patients and their families were investigated, and linkage analysis was performed.STUDY DESIGN: Retrospective and prospective family survey.PATIENTS AND METHODS: Of 193 patients diagnosed with MD, 37 patients could be ascertained as having a positive family history, which means a frequency of 19.2%. Nineteen families with 81 members (52 positive for MD and 29 negative for MD) were investigated according to the guidelines of the Committee on Hearing and Equilibrium of the American Academy of Otolaryngology. Blood samples were obtained, and a genome-wide linkage analysis was performed with microsatellite markers.RESULTS: Age of onset diminished in subsequent generations. We found suggestive evidence of linkage assuming heterogeneity of MD on chromosome 5 with a maximum multipoint logarithm of the odds of linkage (LOD) score of 1.9 for 13 of 17 families and a potential region on chromosome 12 for 8 families. Of the 81 subjects, 27 (33.3%) reported MD only, 25 (30.9%) reported migraine and MD, and 7 (8.6%) reported migraine only.CONCLUSION: Family trees suggest an autosomal dominant inheritance with reduced penetrance and anticipation. A probable candidate region for MD was located on chromosome 5.

KW - Adolescent

KW - Adult

KW - Age of Onset

KW - Aged

KW - Aged, 80 and over

KW - Female

KW - Genetic Linkage

KW - Humans

KW - Male

KW - Meniere Disease

KW - Middle Aged

KW - Pedigree

KW - Prospective Studies

KW - Retrospective Studies

KW - Vertigo

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

UR - http://journals.lww.com/otology-neurotology/pages/default.aspx

U2 - 10.1097/MAO.0b013e318216074a

DO - 10.1097/MAO.0b013e318216074a

M3 - Article

VL - 32

SP - 695

EP - 700

JO - Otology and Neurotology

JF - Otology and Neurotology

SN - 1531-7129

IS - 4

ER -