Abstract
Mutation analysis of the PDS gene and the EYA1 gene, which are reported to be responsible for hearing loss associated with ear anomalies, was performed in 24 deaf patients with various middle and inner ear anomalies. The present study was done to clarify the spectrum of middle and inner ear malformations covered by these two genes. PDS mutations were found only in patients with enlarged vestibular aqueducts and EYA1 mutations were detected only in patients with ear pits and cervical fistulae, indicating that these two genes are associated with particular forms of middle and inner ear malformation. The genetic approach provides a strong tool for the diagnosis of hearing loss associated with ear anomalies.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Carrier Proteins / genetics*
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Child
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Congenital Abnormalities / genetics*
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DNA Mutational Analysis
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Deafness / etiology
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Deafness / genetics*
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Ear / abnormalities*
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Female
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Genes, Dominant
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Genes, Recessive
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Humans
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Intracellular Signaling Peptides and Proteins
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Male
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Membrane Transport Proteins*
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Middle Aged
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Mutation*
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Nuclear Proteins
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Protein Tyrosine Phosphatases
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Sulfate Transporters
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Trans-Activators / genetics*
Substances
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Carrier Proteins
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Intracellular Signaling Peptides and Proteins
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Membrane Transport Proteins
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Nuclear Proteins
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SLC26A4 protein, human
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Sulfate Transporters
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Trans-Activators
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EYA1 protein, human
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Protein Tyrosine Phosphatases