Premium
Bialellic mutations in SLC26A4 Are Associated With Additional Inner Ear Abnormalities
Author(s) -
Tsai Angela C.,
Huang Lin,
Wilkins Abigail,
Kenna Margaret A.
Publication year - 2011
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 - 10.1002/lary.22291
Subject(s) - medicine , otorhinolaryngology , laryngology , medical school , otology , general hospital , family medicine , ophthalmology , medical education , surgery
Methods: 53 individuals, aged 2 to 30 years with EVA in at least one ear were studied (84 affected ears). All subjects underwent genetic testing for SLC26A4. Statistical correlation between hearing loss, as measured by four-frequency pure tone average (500, 1000, 2000, and 4000 Hz), number of mutant SLC26A4 alleles and presence of inner ear anomalies detected by computed tomography or magnetic resonance imaging was undertaken. The median follow-up time was 18 months with a standard deviation of 14 months.