Enlargement of the vestibular aqueduct (EVA) is the most common inner ear anomaly detected in ears of children with sensorineural hearing loss. Pendred syndrome (PS) is an autosomal recessive disorder characterized by bilateral sensorineural hearing loss with EVA and an iodine organification defect that can lead to thyroid goiter. Pendred syndrome is caused by mutations of the
mutations may also be identified in some patients with nonsyndromic EVA (NSEVA). The presence of two mutant alleles of
is correlated with bilateral EVA and Pendred syndrome, whereas unilateral EVA and NSEVA are correlated with one (M1) or zero (M0) mutant alleles of
. Thyroid gland enlargement (goiter) appears to be primarily dependent on the presence of two mutant alleles of
in pediatric patients, but not in older patients. In M1 families, EVA may be associated with a second, undetected
mutation or epigenetic modifications. In M0 families, there is probably etiologic heterogeneity that includes causes other than, or in addition to, monogenic inheritance.
Andrew J. Griffith, MD, PhD
National Institute on Deafness and Other Communication Disorders
5 Research Court, Rockville, Maryland 20850-3320 (USA)
Tel. +1-301-402-2829, Fax +1-301-402-7580, E-Mail firstname.lastname@example.org
Accepted: October 11, 2011
Published online: November 18, 2011
Number of Print Pages : 8
Cellular Physiology and Biochemistry (International Journal of Experimental Cellular Physiology, Biochemistry andPharmacology)
Vol. 28, No. 3, Year 2011 (Cover Date: 2011)
Journal Editor: F. Lang, Tübingen
ISSN: 1015–8987 (Print), eISSN: 1421–9778 (Online)
For additional information: http://www.karger.com/journals/cpb
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