title: Identification of two novel mutations, c.232T>C and c.2006A>T, in SLC26A4 in a Chinese family associated with enlarged vestibular aqueduct.
abstract: It is known that enlarged vestibular aqueduct syndrome is closely related to the SLC26A4 mutation. Up to date, more than 200 of SLC26A4 mutations have been described, and novel mutations are being continually identified in different countries and ethnic groups. In this study, two novel variations were identified in a Chinese family associated with enlarged vestibular aqueduct. The two novel substitutions, c.232T>C and c.2006A>T, were detected in exon 3 and exon 17 of the pendrin encoding gene, respectively. The T/C transversion at 232 nucleotide caused p.Y78H mutation while the A/T transversion at 2006 nucleotide caused p.D669V mutation.
authors.affiliation: Health Department of Gansu Province, Lanzhou, China.
authors.forename: Yu-Fen
authors.initials: YF
authors.lastname: Guo
authors.forename: Yan-Li
authors.initials: YL
authors.lastname: Wang
authors.forename: Bai-Cheng
authors.initials: BC
authors.lastname: Xu
authors.forename: Xiao-Wen
authors.initials: XW
authors.lastname: Liu
authors.forename: Yi-Ming
authors.initials: YM
authors.lastname: Zhu
authors.forename: Fei-Fan
authors.initials: FF
authors.lastname: Zhao
authors.forename: Yu-Bin
authors.initials: YB
authors.lastname: Ji
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhou
authors.forename: Jian-Qiang
authors.initials: JQ
authors.lastname: Li
authors.forename: Qian
authors.initials: Q
authors.lastname: Li
authors.forename: Da-Yong
authors.initials: DY
authors.lastname: Wang
authors.forename: Qiu-Ju
authors.initials: QJ
authors.lastname: Wang
mesh_terms: D044466:Asian People; D001301:Audiometry, Pure-Tone; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D017084:Otoacoustic Emissions, Spontaneous; D010375:Pedigree; D000076988:Sulfate Transporters; D014057:Tomography, X-Ray Computed; D014723:Vestibular Aqueduct / Q000002:abnormalities* / Q000000981:diagnostic imaging
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters