Department of Otolaryngology-Head and Neck Surgery, Lucille Packard Children's Hospital, Stanford University Hospital and Clinics, Stanford, California 94305, USA.
Otol Neurotol. 2011 Jan;32(1):81-7. doi: 10.1097/MAO.0b013e3181fc786f.
Diagnostic yield on GJB2 sequencing and computed tomography in the workup for idiopathic congenital sensorineural hearing loss is related to patient ethnicity.
GJB2 sequencing and computed tomography of the temporal bones are important initial diagnostic tests in the workup of idiopathic congenital sensorineural hearing loss. Previous studies showed an association between mild or unilateral hearing loss and positive imaging findings and between severe or bilateral deafness and GJB2 mutations. Recent studies on connexin 26-associated deafness demonstrate a wide range of phenotypes that vary with ethnicity.
We present a retrospective case series of 271 consecutive ethnically diverse patients evaluated for idiopathic congenital sensorineural hearing loss. Results of genetic testing and imaging were correlated with audiologic findings and ethnicity.
All patients with asymmetric hearing loss had more positive findings on imaging. With respect to the severity of hearing loss, however, differences were noted between ethnic groups. Whereas white patients conformed to previous findings, Hispanics with severe hearing loss had similar rates of positive imaging and genetic testing results. Asians with mild hearing loss had significantly greater yield on genetic testing rather than on imaging. This reflects the high prevalence of the p.V37I mutation in GJB2 among Asians, which gives rise to a mild, frequently progressive phenotype.
Ethnicity should be considered when determining the optimal sequence of diagnostic testing for idiopathic congenital sensorineural hearing loss. Asian patients, in particular, should all be screened for mutations in GJB2, especially in the case of mild hearing loss.
在特发性先天性感觉神经性听力损失的检查中，GJB2 测序和颞骨计算机断层扫描的诊断产量与患者的种族有关。
GJB2 测序和颞骨计算机断层扫描是特发性先天性感觉神经性听力损失检查中的重要初始诊断测试。以前的研究表明，轻度或单侧听力损失与阳性影像学结果之间存在关联，而严重或双侧耳聋与 GJB2 突变之间存在关联。最近关于连接蛋白 26 相关耳聋的研究表明，表型存在广泛的差异，且与种族有关。
我们展示了 271 例连续的、种族多样化的特发性先天性感觉神经性听力损失患者的回顾性病例系列。将遗传检测和影像学结果与听力结果和种族相关联。
所有不对称听力损失的患者影像学检查结果更阳性。然而，就听力损失的严重程度而言，不同种族之间存在差异。白人患者符合以前的发现，而严重听力损失的西班牙裔患者具有相似的影像学和遗传检测阳性结果。轻度听力损失的亚洲人基因检测的阳性率显著高于影像学检查，这反映了 GJB2 中 p.V37I 突变在亚洲人中的高患病率，该突变导致轻度、常进展的表型。
在确定特发性先天性感觉神经性听力损失的最佳诊断测试序列时，应考虑种族因素。特别是亚洲患者，所有患者都应筛查 GJB2 突变，尤其是在出现轻度听力损失的情况下。
