Suggestive linkage to chromosome 6q in families with bilateral vestibulopathy.
Neurology
; 63(12): 2376-9, 2004 Dec 28.
Article
em En
| MEDLINE
| ID: mdl-15623703
ABSTRACT
BACKGROUND:
Of the more than 40 genetically defined dominantly inherited hearing loss syndromes, only a few are associated with bilateral vestibulopathy. No genetic mutations have been identified in families with bilateral vestibulopathy and normal hearing.OBJECTIVE:
To perform a genome-wide scan for linkage in four families with dominantly inherited bilateral vestibulopathy.METHODS:
Patients in four families reported brief episodes of vertigo followed by imbalance and oscillopsia. Bilateral vestibulopathy was documented with quantitative rotational testing. Most patients with bilateral vestibulopathy also had migraine. A 10 cM genome-wide screen was conducted using 423 microsatellite markers to identify linkage with vestibulopathy.RESULTS:
The authors identified a 24 cM region on chromosome 6q suggestive of linkage to vestibulopathy in these four families (maximum lod score of 2.9 at marker D6S1556). A small fifth family with a different phenotype was not linked to this region on chromosome 6q.CONCLUSIONS:
This is the first report of linkage in families with dominantly inherited vestibulopathy and normal hearing. Genetic heterogeneity is likely with inherited vestibulopathy.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 6
/
Doenças Vestibulares
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article