Dai Pu, Han Bing, Yuan Yong-yi, Jin Zheng-ce, Wang Yi, Xiang Yang, Yu Fei, Liu Xin, Wang Guo-jian, Kang Dong-yang, Zhang Xin, Li Mei, Zhai Suo-qiang, Huang De-liang, Han Dong-yi
Department of Otolarygology-Head and Neck Surgery, General Hospital of Chinese People's Liberation Army, Beijing 100853, China.
Zhonghua Yi Xue Za Zhi. 2007 Apr 24;87(16):1088-92.
To analyze the molecular genetic mechanisms of pathogenesis of deafness in the families with deaf-mute patients and analyze the strategies of genetic counseling and intervention for these families.
Peripheral blood samples were collected from the probands with deaf-muteness and their parents of five families and genetic tests were conducted to analyze the GJB2, SLC26A4 (PDS), and mitochondrial DNA (mtDNA) A 1555G genes for the existence of mutation. Families 1-3 had one child with hearing loss each while the parents had normal hearing and the mothers had been pregnant for 6-18 weeks. Both parents of family 4 were deaf-mute, and the wife of family 5 was deaf-mute while her husband had normal hearing.
The proband from family 1 was proven to carry compound GJB2 mutations while his parents carried a single GJB2 mutation; prenatal testing showed that the fetus only carried the paternal mutation. The proband from family 2 was proven to carry compound SLC26A4 (PDS) mutations while his parents carried a single SLC26A4 (PDS) mutation; prenatal testing showed that the fetus only carried the paternal mutation. The proband from family 3 and his parents didn't carry any GJB2, SLC26A4 and mtDNA A1555G mutation. Observation showed that the new born babies of these three families all had normal hearing revealed by new born hearing screening and ABR test. The husband from family 4 was homozygous GJB2 235delC while his wife was mtDNA A1555G positive. This couple was advised to strictly avoid the administration of aminoglycoside antibiotics to their future offspring. In family 5, the wife carried compound SLC26A4 (PDS) mutations while her husband carried a single SLC26A4 (PDS) mutation; and they were told about the 50% risk of their offspring's suffering from enlarged vestibular aqueduct syndrome.
Genetic testing with prenatal testing and relevant intervention for the families with deaf-mute patients can be applied to prevent another deaf-mute member from being born.
分析聋哑患者家庭中耳聋发病的分子遗传机制，并分析这些家庭的遗传咨询和干预策略。
采集5个家庭中聋哑先证者及其父母的外周血样本，进行基因检测，分析GJB2、SLC26A4（PDS）和线粒体DNA（mtDNA）A1555G基因是否存在突变。家庭1 - 3各有1名听力损失患儿，其父母听力正常，母亲孕期为6 - 18周。家庭4的父母均为聋哑人，家庭5的妻子为聋哑人，丈夫听力正常。
家庭1的先证者被证实携带复合GJB2突变，而其父母携带单一GJB2突变；产前检测显示胎儿仅携带父系突变。家庭2的先证者被证实携带复合SLC26A4（PDS）突变，而其父母携带单一SLC26A4（PDS）突变；产前检测显示胎儿仅携带父系突变。家庭3的先证者及其父母未携带任何GJB2、SLC26A4和mtDNA A1555G突变。观察发现，这三个家庭的新生儿通过新生儿听力筛查和ABR测试显示听力均正常。家庭4的丈夫为GJB2 235delC纯合子，其妻子mtDNA A1555G阳性。建议这对夫妇严格避免其未来后代使用氨基糖苷类抗生素。在家庭5中，妻子携带复合SLC26A4（PDS）突变，而丈夫携带单一SLC26A4（PDS）突变；并告知他们其后代患大前庭导水管综合征的风险为50%。
对聋哑患者家庭进行基因检测、产前检测及相关干预，可预防另一个聋哑成员出生。
