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目的探讨伴内耳畸形的人工耳蜗植入患者 SLC26A4(PDS)基因突变发生的概率、突变类型,以及 SLC26A4(PDS)基因突变与各种内耳畸形及术中听神经电诱发复合动作电位(ECAP)检出率之间的关系。方法选取48例伴有内耳畸形的人工耳蜗植入者及50例健康对照。取外周血提取基因组 DNA,经聚合酶链反应扩增 SLC26A4(PDS)基因全部编码区,包括2～21号外显子,扩增产物纯化后直接测序分析突变。48例患者在人工耳蜗植入术中通过神经反应遥测(NRT)技术,直接近场记录听神经电诱发复合动作电位(ECAP)。结果前庭水管扩大组中70.3%(26/37)、其他内耳畸形组中18.2%(2/11)的患者发现有 SLC26A4(PDS)基因突变。本研究中共发现15种突变类型,其中有8种为新发现的类型。IVS7-2A>G 是最常见的 SLC26A4(PDS)基因突变类型,45.9%(17/37)的前庭水管扩大患者发现此种突变。在伴内耳畸形的人工耳蜗植入者患者中,未发现 SLC26A4(PDS)基因突变与术中听神经电诱发复合动作电位(ECAP)检出率之间有相关性。结论 SLC26A4(PDS)基因突变是前庭水管扩大畸形的主要病因,IVST-2A>G 是其最常见的突变类型。
Objective To investigate the probability and type of SLC26A4 (PDS) gene mutation in patients with cochlear implants with internal ear deformity, as well as the mutations of SLC26A4 (PDS) gene and various inner ear deformities and intraoperative auditory evoked potentials (ECAP) The relationship between rates. Methods Forty-eight cochlear implant recipients with deformities of the inner ear and 50 healthy controls were selected. Genomic DNA was extracted from peripheral blood and all the coding region of SLC26A4 (PDS) gene was amplified by polymerase chain reaction, including exons 2-21. The amplified product was purified and directly sequenced to analyze the mutations. Forty-eight patients underwent sinus nerve-induced telemetry (NRT) during cochlear implants to record the auditory nerve evoked compound action potentials (ECAPs) at the near-field. Results 70.3% (26/37) in the vestibular aqueduct group and 18.2% (2/11) in the other deformities of the inner ear were found to have mutations in the SLC26A4 (PDS) gene. A total of 15 types of mutations were found in this study, of which 8 were newly discovered. IVS7-2A> G is the most common type of SLC26A4 (PDS) gene mutation found in 45.9% (17/37) of patients with vestibular aqueduct enlargement. There was no correlation between SLC26A4 (PDS) gene mutation and the rate of auditory nerve evoked compound action potential (ECAP) detection in cochlear implant recipients with deformity of inner ear. Conclusions SLC26A4 (PDS) gene mutation is the main cause of enlargement deformity in vestibular aqueduct. IVST-2A> G is the most common type of mutation.