Identification of two novel mutations, c.232T>C and c.2006A>T, in SLC26A4 in a Chinese family associated with enlarged vestibular aqueduct.
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.
Guo
Yu-Fen
YF
Health Department of Gansu Province, Lanzhou, China.
Wang
Yan-Li
YL
Xu
Bai-Cheng
BC
Liu
Xiao-Wen
XW
Zhu
Yi-Ming
YM
Zhao
Fei-Fan
FF
Ji
Yu-Bin
YB
Zhou
Ying
Y
Li
Jian-Qiang
JQ
Li
Qian
Q
Wang
Da-Yong
DY
Wang
Qiu-Ju
QJ
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
D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters