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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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| Authors: | Yu-Fen Guo Yan-Li Wang Bai-Cheng Xu Yi-Ming Zhu Yu-Bin Ji Jian-Qiang Li Da-Yong Wang |
| Affiliation: | a Health Department of Gansu Province, Lanzhou, China b Department of Otolaryngology-Head and Neck Surgery, the Second Hospital of Lanzhou University, Lanzhou, China c Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing, China |
| 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. |
| Keywords: | Enlarged vestibular aqueduct syndrome SLC26A4 Novel mutation c.232T>C c.2006A>T |
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