A family affected by branchio-oto syndrome with EYA1 mutations.
Auris Nasus Larynx
; 28 Suppl: S7-11, 2001 May.
Article
em En
| MEDLINE
| ID: mdl-11683347
ABSTRACT
Branchio-oto (BO) syndrome is complicated with congenital preauricular fistulae, branchial fistulae (cysts), and hearing loss (sensorineural, conductive or mixed). As well as branchio-oto-renal (BOR) syndrome. it is known to be an autosomal dominant hereditary disorder. Since mutations in the EYA1 gene have been identified in both BO and BOR syndromes, mutation screening of this gene has been drawing attention as a genetic test to diagnose BOR/BO syndromes. In this study, we genetically investigated the presence of EYA1 mutations in a BO syndrome family in which we observed congenital preauricular fistulae, branchial fistulae (cysts) and hearing loss in four generations. Whereas there was a variety of phenotype expressions in this family, all subjects tested had a nonsense mutation (R264X) in exon 8 of the EYA1 gene. The present report adds further examples to support the usefulness of molecular genetic testing for the diagnosis of patients with BO syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transativadores
/
Síndrome Brânquio-Otorrenal
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Auris Nasus Larynx
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Japão