Zhao X L, Huang L H, Wang X Y, DU Yt, Wang Xl, Cheng X H, Zhao L P, Li Y
Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing Institute of Otolaryngology, Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University), Ministry of Education, Beijing, 100005, China.
Department of Anesthesiology, Peking University First Hospital.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2018 Jun 5;32(11):836-840. doi: 10.13201/j.issn.1001-1781.2018.11.009.
To explore the correlation of SLC26A4 genotype and audiology.The subjects were 70 children aged 0 to 7 years old, who were admitted to otological outpatient department.All subjects received nine crystal hereditary deafness gene chip and confirmed by (or)SLC26A4 gene full coding region detection.The patients were diagnosed as homozygous or compound heterozygous mutations.At the same time,acoustic immittance,auditory brainstem response, auditory steady state response and pediatric behavior audiometry, newborn hearing screening and other audiological tests were displayed. According to the genotype, the subjects were divided into two groups: group A (SLC26A4 gene homozygous mutation) in 40 cases, group B (SLC26A4 gene compound heterozygous mutation) in 30 cases. The frequency of SLC26A4 gene mutation, the two groups of genotypes and hearing screening results,the degree of hearing loss and audiometric configurations were analyzed statistically. In 70 patients, the top 4 of the 70 patients with high frequency of mutations were IVS7-2A> G(76.43%), 2168A> G(15.00%), 1226G> A(2.86%) and 2000T> C(2.16%), respectively. 34.29% of newborns passed hearing screening with single or double ears, among which group A and group B were 32.50% and 36.67%,respectively. There was no statistically significant difference between two groups in hearing screening. The degree of hearing loss in group A(56.25%) and group B(48.33%) were mainly profound and there was no significant difference between them. The audiometric configurations: group A(60.00%) was mainly high frequency loss type, while group B(55.00%) was mainly flat type. The difference between them was statistically significant.The mutation sites of SLC26A4 gene were mainly IVS7-2A> G, and the degree of hearing loss was mostly profound. To the audiometric configurations,SLC26A4 gene homozygous mutant were mainly high frequency loss type, while SLC26A4 gene compound heterozygous mutant were mainly flat type. 34.29% children passed universal newborn hearing screening with one ear at least, which indicates SLC26A4 gene mutations can result in late-onset hearing loss, so those patients should be attached great importance..
探讨SLC26A4基因分型与听力学表现的相关性。研究对象为70例0至7岁儿童，均来自耳科门诊。所有研究对象均接受九项遗传性耳聋基因芯片检测，并通过（或）SLC26A4基因全长编码区检测进行确诊，确诊为纯合或复合杂合突变。同时，展示了声导抗、听性脑干反应、听觉稳态反应及小儿行为测听、新生儿听力筛查等听力学检测结果。根据基因分型将研究对象分为两组：A组（SLC26A4基因纯合突变）40例，B组（SLC26A4基因复合杂合突变）30例。对SLC26A4基因突变频率、两组基因分型与听力筛查结果、听力损失程度及听力图构型进行统计学分析。70例患者中，突变频率前4位的依次为IVS7-2A>G（76.43%）、2168A>G（15.00%）、1226G>A（2.86%）和2000T>C（2.16%）。34.29%的新生儿单耳或双耳通过听力筛查，其中A组和B组分别为32.50%和36.67%，两组听力筛查差异无统计学意义。A组（56.25%）和B组（48.33%）听力损失程度均以极重度为主，两组间差异无统计学意义。听力图构型：A组（60.00%）以高频损失型为主，B组（55.00%）以平坦型为主，两组间差异有统计学意义。SLC26A4基因突变位点主要为IVS7-2A>G，听力损失程度多为极重度。就听力图构型而言，SLC26A4基因纯合突变主要为高频损失型，而SLC26A4基因复合杂合突变主要为平坦型。34.29%的儿童至少单耳通过新生儿听力普遍筛查，提示SLC26A4基因突变可导致迟发性听力损失，应予以高度重视。
