title: SLC26A4 p.Thr410Met homozygous mutation in a patient with a cystic cochlea and an enlarged vestibular aqueduct showing characteristic features of incomplete partition type I and II.
abstract: Mutations of SLC26A4 are associated with incomplete partition type II (IP-II) and isolated enlargement of the vestibular aqueduct (EVA). We experienced a congenitally deaf 6-year-old boy with a rare p.Thr410Met homozygous mutation in SLC26A4 who underwent bilateral cochlear implantation. He had bilateral inner ear malformation, in which the dilated vestibule and EVA were identical to those in IP-II, but the cochlea lacking a bony modiolus resembled that in incomplete partition type I. These results suggest that homozygous mutations in SLC26A4 are always associated with EVA, while the severity of cochlear malformation may vary depending on the type of SLC26A4 mutation.
authors.affiliation: Department of Otolaryngology, Head and Neck Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan. Electronic address: h_yamazaki@ent.kuhp.kyoto-u.ac.jp.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yamazaki
authors.affiliation: Department of Otolaryngology, Kobe City Medical Center General Hospital, Kobe, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Naito
authors.affiliation: Department of Otolaryngology, Kobe City Medical Center General Hospital, Kobe, Japan.
authors.forename: Saburo
authors.initials: S
authors.lastname: Moroto
authors.affiliation: Department of Otolaryngology, Kobe City Medical Center General Hospital, Kobe, Japan.
authors.forename: Rinko
authors.initials: R
authors.lastname: Tamaya
authors.affiliation: Department of Otolaryngology, Kobe City Medical Center General Hospital, Kobe, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Yamazaki
authors.affiliation: Department of Otolaryngology, Kobe City Medical Center General Hospital, Kobe, Japan.
authors.forename: Keizo
authors.initials: K
authors.lastname: Fujiwara
authors.affiliation: Department of Otolaryngology, Head and Neck Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
authors.forename: Juichi
authors.initials: J
authors.lastname: Ito
mesh_terms: D002648:Child; D003051:Cochlea / Q000002:abnormalities*; D019929:Cochlear Implantation; D003638:Deafness / Q000601:surgery; D006720:Homozygote; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D000076988:Sulfate Transporters; D014723:Vestibular Aqueduct / Q000002:abnormalities*
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters
keywords: Cochlear implant; Enlarged vestibular aqueduct; Homozygous mutation; Incomplete partition; Inner ear malformation; SLC26A4