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SIX1 Mutation Associated With Enlargement of the Vestibular Aqueduct in a Patient With Branchio‐Oto Syndrome
Author(s) -
Ito Taku,
Noguchi Yoshihiro,
Yashima Takatoshi,
Kitamura Ken
Publication year - 2006
Publication title -
the laryngoscope
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.181
H-Index - 148
eISSN - 1531-4995
pISSN - 0023-852X
DOI - 10.1097/01.mlg.0000209096.40400.96
Subject(s) - mutation , exon , vestibular aqueduct , genetics , gene , medicine , hearing loss , biology , audiology
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.