Cochlear Implantation in Children With Congenital X-Linked Deafness Due to Novel Mutations in POU3F4 Gene
Cochlear Implantation in Children With Congenital X-Linked Deafness Due to Novel Mutations in POU3F4 Gene
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DOI：
10.1177/000348941011901205
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发表时间：
2010-12-01
影响因子：
1.4
通讯作者：
Mankarious, Leila A.
中科院分区：
文献类型：
--
作者：
Stankovic, Konstantina M.;Hennessey, Ann Marie;Mankarious, Leila A.
目的：我们报告了导致先天性 X 连锁耳聋 DFN3 的 POU3F4 基因新突变，并描述了 4 名男孩（3 名兄弟姐妹）的人工耳蜗植入结果，平均随访 3.5 年。方法：男婴 DFN3 的诊断是根据耳轴发育不全、耳蜗窝宽以及所有耳蜗转角均存在的放射学标准进行的。对 POU3F4 基因进行测序。采用标准的经乳突面隐窝入路进行人工耳蜗植入。手术前放置腰椎引流管。结果：POU3F4 基因中发现的突变是新的（3 个兄弟姐妹中的 p.R167X）或最近报道的（p.S310del）。每位患者都遇到过通过耳蜗造口术发生高流量脑脊液漏的情况，但最终得到了控制。尽管植入物功能正常，但 3 名兄弟姐妹的听觉感知能力并没有超过声音检测能力，也没有超过非兄弟姐妹的封闭式单词识别能力，他们通过对侧放大实现了更好的言语感知。三个男孩（两个兄弟姐妹）表现出其他学习障碍的迹象； 1 名男孩年龄太小，无法进行完整评估。结论：对考虑人工耳蜗植入的 DFN3 患者进行术前基因突变分析可能有助于长期咨询和避免术后并发症。可能会导致听觉感知和语言习得受限。尽管听力损失很严重，但扩音有时可能是比人工耳蜗植入更好的选择。
Objectives: We report novel mutations in the POU3F4 gene resulting in congenital X-linked deafness DFN3, and describe the results of cochlear implantation in 4 boys (3 siblings) followed for an average of 3.5 years.Methods: The diagnosis of DFN3 was made in infant boys on the basis of the radiologic criteria of an underdeveloped modiolus, a wide cochlear fossette, and the presence of all cochlear turns. The POU3F4 gene was sequenced. A standard, transmastoid, facial recess approach was used for cochlear implantation. A lumbar drain was placed before the operation.Results: The identified mutations in the POU3F4 gene were novel (p.R167X in the 3 siblings) or recently reported (p.S310del). A high-flow cerebrospinal fluid leak through the cochleostomy was encountered in each patient and was ultimately controlled. Although the implants functioned properly, the auditory perceptual abilities did not progress past sound detection in the 3 siblings, or past closed-set word identification in the non-sibling, who achieved better speech perception with contralateral amplification. Three boys (2 siblings) show signs of other learning disorders; 1 boy was too young for a complete assessment.Conclusions: Preoperative gene mutation analysis in DFN3 patients who are considering cochlear implantation may help in long-term counseling and in avoidance of postoperative complications. Limited auditory perception and language acquisition may result. Amplification may sometimes be a better alternative than cochlear implantation, despite the severity of the hearing loss.