title: [A case of enlarged vestibular aqueduct syndrome with PDS gene mutations].
abstract: Enlarged vestibular aqueduct (EVA) is an inner ear anomaly occasionally associated with sensorineural hearing loss (SNHL) and/or dizziness. Recent genetic studies indicate that mutations in the PDS gene may cause EVA. A 10-year-old EVA patient who had undergone annual hearing tests for 7 years had an aunt and cousin who also had hearing loss and EVA, so genetic examinations were conducted for a possible genetic link. Two new PDS gene mutations, S610X and S657N, were found in all 3, including the proband. We discuss the importance of genetic analysis, which offers new insight into SNHL diagnosis and treatment in children.
authors.affiliation: Department of Otorhinolaryngology, Miyazaki Medical College, Miyazaki.
authors.forename: Kensuke
authors.initials: K
authors.lastname: Kiyomizu
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Tsuboi
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Tono
authors.forename: Shizuo
authors.initials: S
authors.lastname: Komune
authors.forename: Satoko
authors.initials: S
authors.lastname: Abe
authors.forename: Hideichi
authors.initials: H
authors.lastname: Shinkawa
authors.forename: Koji
authors.initials: K
authors.lastname: Tsukamoto
authors.forename: Shinichi
authors.initials: S
authors.lastname: Usami
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins; D009154:Mutation; D010375:Pedigree; D000076988:Sulfate Transporters; D013577:Syndrome; D014717:Vertigo / Q000235:genetics*; D014723:Vestibular Aqueduct / Q000002:abnormalities*
chemical_list: D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters