This study was supported by a Grant-in-Aid for Scientific Research (nos. 14370539, 17390457, 16659462, 16790991, 17791163, 16012215) from the Ministry of Science, Education, Sports and Culture of Japan, and by Health and Labour Sciences Research Grants (H13-006; Researches on Sensory and Communicative Disorders, and H14-21 and no. 17242101; Research on Measures for Intractable Diseases) from the Ministry of Health, Labour and Welfare of Japan.
SIX1 Mutation Associated With Enlargement of the Vestibular Aqueduct in a Patient With Branchio-Oto Syndrome†
Article first published online: 2 JAN 2009
Copyright © 2006 The Triological Society
Volume 116, Issue 5, pages 796–799, May 2006
How to Cite
Ito, T., Noguchi, Y., Yashima, T. and Kitamura, K. (2006), SIX1 Mutation Associated With Enlargement of the Vestibular Aqueduct in a Patient With Branchio-Oto Syndrome. The Laryngoscope, 116: 796–799. doi: 10.1097/01.mlg.0000209096.40400.96
- Issue published online: 2 JAN 2009
- Article first published online: 2 JAN 2009
- Manuscript Accepted: 27 JAN 2006
- Branchio-oto syndrome;
- enlargement of vestibular aqueduct;
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 AG 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.