Identification of two novel mutations, c.232T>C and c.2006A>T, in SLC26A4 in a Chinese family associated with enlarged vestibular aqueduct
Identification of two novel mutations, c.232T>C and c.2006A>T, in SLC26A4 in a Chinese family associated with enlarged vestibular aqueduct
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DOI：
10.1016/j.ijporl.2010.04.005
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发表时间：
2010-07-01
影响因子：
1.5
通讯作者：
Wang, Qiu-Ju
中科院分区：
文献类型：
--
作者：
Guo, Yu-Fen;Wang, Yan-Li;Wang, Qiu-Ju
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. (C) 2010 Elsevier Ireland Ltd. All rights reserved.
