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Laryngoscope. 2006 May;116(5):796-9.

SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome.

Author information

1
Department of Otolaryngology, Tokyo Medical and Dental University, Tokyo, Japan.

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.

[Indexed for MEDLINE]

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