Li Qi, Fang Ruping, You Yiwen, Wang Yong, Dai Pu
Department of Otolaryngology-Head and Neck Surgery, Nanjing Children's Hospital, Nanjing Medical University, Nanjing 210008, China.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2010 Oct;24(19):876-9.
To investigate the frequencies of SLC26A4 hot spot mutations by genetic testing method in non-syndromic hearing loss children. The feasibility of genetic screening method in finding enlarged vestibular aqueduct syndrome was confirmed by temporal bone CT scan.
Ninety-two children with moderate-profound hearing loss were enrolled and DNA were extracted from peripheral blood. SLC26A4 IVS7-2A > G and H723R mutations were analyzed by direct sequencing. The individual with homozygous, compound heterozygous or heterozygous SLC26A4 mutations was given further temporal CT scan.
The sequencing results revealed 11 (12.0%) cases carrying SLC26A4 mutations, including 5 cases of bi-allelic mutation and 6 cases of single allelic mutation.
The SLC26A4 mutations has a high carrying rate in non-syndromic hearing loss children. The screening for the SLC26A4 gene mutations is useful in the diagnosis of EVAS.
采用基因检测方法调查非综合征性听力损失儿童中SLC26A4热点突变的频率。通过颞骨CT扫描证实基因筛查方法在发现大前庭导水管综合征方面的可行性。
纳入92例中重度听力损失儿童，提取外周血DNA。采用直接测序法分析SLC26A4基因IVS7-2A>G和H723R突变。对携带纯合、复合杂合或杂合SLC26A4突变的个体进行进一步的颞骨CT扫描。
测序结果显示11例（12.0%）携带SLC26A4突变，其中双等位基因突变5例，单等位基因突变6例。
SLC26A4突变在非综合征性听力损失儿童中的携带率较高。SLC26A4基因突变筛查对大前庭导水管综合征的诊断有帮助。
