A Meniere's disease gene linked to chromosome 12p12.3

✍ Scribed by Joakim Klar; Carina Frykholm; Ulla Friberg; Niklas Dahl

• Book ID: 101454449
• Publisher: John Wiley and Sons
• Year: 2006
• Tongue: English
• Weight: 114 KB
• Volume: 141B
• Category: Article
• ISSN: 1552-4841
• DOI: 10.1002/ajmg.b.30347

✦ Synopsis

Abstract

Meniere's disease (MD) is characterized by spontaneous attacks of vertigo, fluctuating sensorineural hearing loss, tinnitus, and aural fullness. The majority of patients with MD appear sporadic but 5%–13% of the cases have a family history for the disease. The cause of both the sporadic and inherited forms of MD remains unclear despite a number of candidate genes defined from their association with hearing loss. We have performed a genome wide linkage scan on a large Swedish family segregating MD in five generations. Five candidate regions with a lod score of >1 were identified. Two additional families with autosomal dominant MD were analyzed for linkage to these regions and a cumulative Z~max~ of 3.46 was obtained for a single region on chromosome 12p. In two of the three families, a shared haplotype was found to extend over 1.7 Mb which suggests a common ancestral origin. Within this region, a single recombination event restricts the candidate region to 463 kb. © 2006 Wiley‐Liss, Inc.