SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome |
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Authors: | Ito Taku Noguchi Yoshihiro Yashima Takatoshi Kitamura Ken |
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Affiliation: | Department of Otolaryngology, Tokyo Medical and Dental University, Tokyo, Japan. |
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Abstract: | OBJECTIVES:: The objectives of this study were to identify SIX1 gene mutations in a patient with branchio-oto syndrome (BO) and to clarify the relationship between SIX1 mutation and enlargement of the vestibular aqueduct (EVA). METHODS:: A genetic study and retrospective chart review for a patient in whom EYA1 mutation had already been excluded was conducted. We studied a Japanese patient who had autosomal-dominant mixed hearing loss, a unilateral ear pit and unilateral EVA, and who was previously diagnosed as having BO. We searched for SIX1 and SLC26A4 mutations using polymerase chain reaction and direct gene sequencing. RESULTS:: The patient carried a heterozygous A-->G mutation at nucleotide 386 within exon 1 of SIX1 that resulted in substitution of a cysteine for a tyrosine at codon 129 (Y129C) of the gene product. Y129C is a previously identified SIX1 mutation and was not detected in any of our 164 control chromosomes. No SLC26A4 mutations were identified. CONCLUSION:: Y129C mutation in SIX1 may cause EVA as well as BO. |
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Keywords: | Branchio‐oto syndrome enlargement of vestibular aqueduct SIX1 EYA1 SLC26A4 |
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