Journal
GENETICS IN MEDICINE
Volume 13, Issue 5, Pages 415-420Publisher
NATURE PUBLISHING GROUP
DOI: 10.1097/GIM.0b013e3182091a41
Keywords
anticipation; autosomal dominant inheritance; familial; linkage analysis; Meniere disease
Categories
Funding
- Finnish Foundation for Ear Diseases
- Eemil Aaltonen Foundation
Ask authors/readers for more resources
Purpose: To study the inheritance and characteristics of familial Meniere disease in Finland and genetic linkage to the previously proposed locus on chromosome 12p12.3. Methods: Sixteen Meniere families recruited from Kainuu Central Hospital and Helsinki and Oulu University Hospitals in the period 2001-2004 were reevaluated in 2009 using hospital records and mailed questionnaire forms. Ten highly polymorphic microsatellite markers were selected from the area of chromosome 12p12.3 and studied for linkage using the GENEHUNTER protocol. Results: The families showed autosomal dominant inheritance without cosegregation with migraine. Anticipation was seen only in one family, and in the rest of the families, the age of onset varied randomly among generations and individuals. The severity of the disease was not related to descending generations. None of the maximum logarithm of odds (LOD)/heterogeneity LOD scores in the analysis of chromosome 12p12.3 in Finnish Meniere families reached a significant value of 3.0 (maximum cumulative LOD score: -7.29, heterogeneity LOD: -0.95, alpha = 0.4). Conclusions: Families affected by Meniere disease are highly heterogeneous. Migraine, age at onset, anticipation, or penetrance was not a shared feature. The findings support the multifactorial nature of the disease and indicate that genetic heterogeneity exists within familial Meniere disease. Genet Med 2011: 13(5): 415-420.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available