Li Qi, Huang De-liang, Zhu Qing-wen, Yuan Yong-yi, Fang Ru-ping, Dai Pu
Department of Otolaryngology-Head and Neck Surgery, Nanjing Children's Hospital, Nanjing Medical University, Nanjing, Jiangsu, P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Dec;27(6):610-5. doi: 10.3760/cma.j.issn.1003-9406.2010.06.002.
To investigate the whole sequence of the SLC26A4 gene in moderate to profound sensorineural hearing loss (SNHL) patients with IVS7-2A to G mutation of the gene in China.
Whole SLC26A4 gene sequence was analyzed by direct sequencing in 80 SLC26A4 gene IVS7-2A to G mutation carriers for the occurrence of a second mutation in the gene.
Forty-seven out of the 80 patients were found to have a second heterozygous mutation, whereas a single IVS7-2A to G mutation could be responsible for SNHL in the remaining 33 patients. Three novel mutations, 5+ 2T to A, 14-2A to G and 1825del G, were identified. The five most common mutations include H723R (20%), T410M(5%), C.1705+ 5G to A (15+ 5G to A)(5%), L676Q(5%), and N392Y (3.75%). Exon 17 harbored the most types of compound heterozygosity with the IVS7-2A to G mutation.
A Chinese specific SLC26A4 diversity was found, and comparable SLC26A4 contributing to deafness. This study suggested that if a heterozygous SLC26A4 mutation is found in a patient with deafness, other exons of the SLC26A4 gene should be analyzed. Furthermore, double heterozygosity of the SLC26A4 gene may also account for some of the disease phenotype.
研究中国中度至重度感音神经性听力损失（SNHL）患者中SLC26A4基因IVS7-2A至G突变的全序列。
对80例SLC26A4基因IVS7-2A至G突变携带者进行直接测序，分析SLC26A4基因全序列中是否存在第二个突变。
80例患者中有47例被发现存在第二个杂合突变，而其余33例患者的SNHL可能由单一的IVS7-2A至G突变引起。鉴定出三个新突变，即5+2T至A、14-2A至G和1825del G。五个最常见的突变包括H723R（20%）、T410M（5%）、C.1705+5G至A（15+5G至A）（5%）、L676Q（5%）和N392Y（3.75%）。外显子17携带与IVS7-2A至G突变的复合杂合类型最多。
发现了中国特有的SLC26A4基因多样性，且SLC26A4对耳聋的贡献具有可比性。本研究表明，如果在耳聋患者中发现杂合的SLC26A4突变，应分析SLC26A4基因的其他外显子。此外，SLC26A4基因的双重杂合性也可能解释部分疾病表型。
