[SLC26A4热点突变筛查对大前庭导水管综合征的诊断作用]
[Diagnostic function of SLC26A4 hot spot mutations screening to enlarged vestibular aqueduct syndrome].
作者信息
Li Qi, Fang Ruping, You Yiwen, Wang Yong, Dai Pu
机构信息
Department of Otolaryngology-Head and Neck Surgery, Nanjing Children's Hospital, Nanjing Medical University, Nanjing 210008, China.
出版信息
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2010 Oct;24(19):876-9.
OBJECTIVE
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.
METHOD
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.
RESULT
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.
CONCLUSION
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.
目的
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。
方法
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。
结果
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。
结论
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。
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