Abstract
Advances in molecular genetics have recently revealed that mutations in the EYA1 gene are responsible for branchio-oto-renal (BOR) syndrome in European and other populations. This is the first report confirming that an EYA1 gene mutation is also disease-causing in an Asian population. We have described one Japanese BOR syndrome family showing a novel mutation in exon 7 of the EYA1 gene. There was extensive variation of clinical phenotypes within this family. When the physician is confronted with a BOR family showing a wide variation in clinical expression, molecular genetic testing helps to achieve accurate diagnosis.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Audiometry
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Branchio-Oto-Renal Syndrome / diagnostic imaging
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Branchio-Oto-Renal Syndrome / genetics*
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Female
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Humans
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Intracellular Signaling Peptides and Proteins
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Japan
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Kidney / diagnostic imaging
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Male
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Mutation*
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Nuclear Proteins
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Pedigree
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Phenotype
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Protein Tyrosine Phosphatases
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Temporal Bone / diagnostic imaging
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Tomography, X-Ray Computed
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Trans-Activators / genetics*
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Ultrasonography
Substances
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Intracellular Signaling Peptides and Proteins
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Nuclear Proteins
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Trans-Activators
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EYA1 protein, human
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Protein Tyrosine Phosphatases