Han Ming-yu, Huang Sha-sha, Wang Guo-jian, Yuan Yong-yi, Kang Dong-yang, Zhang Xin, Dai Pu
Department of Otolaryngology Head and Neck Surgery, General Hospital of People's Liberation Army, Beijing 100853, China.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2011 Nov;46(11):909-13.
Analyzed the molecular pathogenesis of probands by means of genetic test and assisted the local Family Planning Institute by providing prenatal genetic counseling and instruction for deaf families who eager to have more baby.
Total of forty-three deaf families were recruited by two institutes for family planning from Guangzhou and Weifang. Forty-two families had one deaf child with normal hearing parents. One family was that parents and their child were all deaf. Genetic testing of GJB2, SLC26A4 and mitochondrial DNA (mtDNA) 12SrRNA were firstly performed in probands and their parents, following medical history, physical examination, auditory test and CT scan of temporal bone were completed. And then the genetic information and instruction were provided to each deaf family.
Fifteen of these 43 families had positive results of genetic test. In fifteen families, one family was confirmed that the parents and their child all carried homozygous GJB2 mutations and the recurrence risk was 100%. Twelve families were confirmed that the probands carried homozygous/compound GJB2 or SLC26A4 mutations while their parents were GJB2 or SLC26A4 carriers, and the recurrence risk was 25%. One family was confirmed that the proband, diagnosed with enlarged vestibular aqueduct syndrome (EVAS) by CT scan, carried heterozygous SLC26A4 mutation from the mother, and the recurrence risk was still 25% based on the hereditary pattern of EVAS although another SLC26A4 mutation from the father was not found. One family was confirmed that the proband carried a heterozygous GJB2 mutation from the mother and the possibility to be GJB2 carrier for offsprings was 50%. The rest 28 families were that all probands and their parents did not carry GJB2, SLC26A4 and mtDNA 12SrRNA pathological mutation.
Genetic testing can provide more accurate and useful prenatal genetic counseling and instruction to deaf families. Meanwhile, it is an ideal way to develop a cooperative relationship with the institute for family planning.
通过基因检测分析先证者的分子发病机制，并为当地计划生育机构提供帮助，为渴望生育更多孩子的聋人家庭提供产前遗传咨询和指导。
广州和潍坊的两家计划生育机构共招募了43个聋人家庭。42个家庭中，孩子为聋人，父母听力正常。1个家庭父母及其孩子均为聋人。先对先证者及其父母进行GJB2、SLC26A4和线粒体DNA（mtDNA）12SrRNA的基因检测，随后完成病史采集、体格检查、听力测试及颞骨CT扫描。然后向每个聋人家庭提供遗传信息和指导。
这43个家庭中有15个家庭基因检测结果为阳性。在这15个家庭中，1个家庭被确诊父母及其孩子均携带纯合GJB2突变，复发风险为100%。12个家庭被确诊先证者携带纯合/复合GJB2或SLC26A4突变，而其父母为GJB2或SLC26A4携带者，复发风险为25%。1个家庭被确诊先证者经CT扫描诊断为大前庭导水管综合征（EVAS），携带来自母亲的杂合SLC26A4突变，尽管未发现来自父亲的另一个SLC26A4突变，但根据EVAS的遗传模式，复发风险仍为25%。1个家庭被确诊先证者携带来自母亲的杂合GJB2突变，其后代成为GJB2携带者的可能性为50%。其余28个家庭中，所有先证者及其父母均未携带GJB2、SLC26A4和mtDNA 12SrRNA病理性突变。
基因检测可为聋人家庭提供更准确、有用的产前遗传咨询和指导。同时，这是与计划生育机构建立合作关系的理想方式。
