title: SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.
abstract: 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 SLC26A4 gene. SLC26A4 mutations may also be identified in some patients with nonsyndromic EVA (NSEVA). The presence of two mutant alleles of SLC26A4 is correlated with bilateral EVA and Pendred syndrome, whereas unilateral EVA and NSEVA are correlated with one (M1) or zero (M0) mutant alleles of SLC26A4. Thyroid gland enlargement (goiter) appears to be primarily dependent on the presence of two mutant alleles of SLC26A4 in pediatric patients, but not in older patients. In M1 families, EVA may be associated with a second, undetected SLC26A4 mutation or epigenetic modifications. In M0 families, there is probably etiologic heterogeneity that includes causes other than, or in addition to, monogenic inheritance.
authors: Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850-3320, USA.
authors: Taku
authors: T
authors: Ito
authors: Byung Yoon
authors: BY
authors: Choi
authors: Kelly A
authors: KA
authors: King
authors: Christopher K
authors: CK
authors: Zalewski
authors: Julie
authors: J
authors: Muskett
authors: Parna
authors: P
authors: Chattaraj
authors: Thomas
authors: T
authors: Shawker
authors: James C
authors: JC
authors: Reynolds
authors: John A
authors: JA
authors: Butman
authors: Carmen C
authors: CC
authors: Brewer
authors: Philine
authors: P
authors: Wangemann
authors: Seth L
authors: SL
authors: Alper
authors: Andrew J
authors: AJ
authors: Griffith
mesh_terms: D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics* / Q000378:metabolism*; D010641:Phenotype; D000076988:Sulfate Transporters; D014723:Vestibular Aqueduct / Q000002:abnormalities*
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters