常见位点筛查在耳聋遗传咨询门诊应用现状

Application of Genetic Screening in a Hereditary Hearing Loss Consultation Clinic

目的归纳常见位点筛查在耳聋遗传门诊的应用,包括遗传咨询临床实践的相关流程和经验,探讨不同需求病例筛查后遗传咨询的策略和原则。方法回顾性分析我院耳聋遗传咨询门诊2016.1-2019.9966例选择进行常见位点筛查遗传咨询对象的临床资料,按照新生儿耳聋基因筛查未通过组、极重度语前聋组、有耳聋家族史正常听力育龄青年组、咨询氨基糖甙类药物致聋风险组4个组进行总结。门诊流程包括对咨询对象进行病史和家族史调查、绘制家系图谱、常规体检、听力学随访、热点突变筛查等。根据基因检测结果开展遗传咨询和生育指导。结果新生儿耳聋基因筛查未通过组最终诊断为听力损失病例21例(2.5%),其中筛查结果为致聋基因型病例15例(1.8%);极重度语前聋组筛查阳性病例69例(65.1%),56例达到分子学确诊(52.8%),即听力学表型与基因检测结果吻合,前庭水管扩大患者有影像学证据支持;18例有耳聋家族史正常听力的育龄青年组,筛查携带常见隐性遗传基因变异4例;咨询药物聋风险组筛查出MT-RNR1 m.1555 A>G均质变异1例。结论常见位点筛查在耳聋遗传门诊应用广泛,同样的检测项目,遗传咨询重点根据受试者目的不同进行侧重,基因检测结果应与临床表型相结合进行分析,必要时需进一步进行基因诊断。

Objective To report clinical experience of genetic screening and consultation on hereditary hearing loss for different patient groups.Methods Clinical data of 966 patients who had chosen genetic screening at our Deafness Consultation Clinic were retrospectively analyzed.The patients include newborns who failed the genetic screening,patients with severe prelingual hearing loss,normal hearing young individuals with a family history of deafness and individuals requesting evaluation of risks for drug-induced hearing loss.The consultation process included investigation of the etiology and family history,drawing the pedigree,physical examination,auditory assessment and genetic screening.Genetic counseling procedures were offered based on evaluation results.Results Hearing loss was diagnosed in 21(2.5%)newborns who had failed genetic screening,including confirmed hereditary hearing loss in 15(1.8%).Of the 69 patients with profound prelingual deafness and positive genetic screening,56 were diagnosed with hereditary hearing loss with related mutations identified.In 18 young individuals with normal hearing and a family history of hearing loss,4 were found to carry recessive deafness genes.Among the 5 individuals assessed for risks for drug ototoxicity,1 was found carrying homogenous MT-RNR1 m.1555 A>G mutation.Conclusion Genetic screening has been widely used in the deafness consultation clinic.Genetic counseling should be focused on the initial purpose of consultation and combine screening results with clinical phenotypes.Genetic diagnosis can be offered when needed.