A family affected by branchio-oto syndrome with EYA1 mutations
| Autor: | Shin-ichi Usami, Eiko Koda, Yukio Inuyama, Eiji Chida, Satoshi Fukuda, Rie Shimizu, Ken Kitamura, Atsushi Namba, Tsutomu Kuroda, Satoko Abe |
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| Rok vydání: | 2001 |
| Předmět: |
Male
medicine.medical_specialty Hearing loss Nonsense mutation Autosomal dominant hereditary disorder Exon medicine Mutation screening Humans Child Gene Genetics business.industry Molecular genetic testing Intracellular Signaling Peptides and Proteins Nuclear Proteins General Medicine Dermatology Phenotype Pedigree Otorhinolaryngology Mutation Trans-Activators Surgery sense organs Protein Tyrosine Phosphatases medicine.symptom business Branchio-Oto-Renal Syndrome |
| Zdroj: | Auris Nasus Larynx. 28:S7-S11 |
| ISSN: | 0385-8146 |
| DOI: | 10.1016/s0385-8146(01)00082-7 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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