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X-Linked Sensorineural Hearing Loss: A Literature Review
Current Genomics ( IF 1.8 ) Pub Date : 2018-06-01 , DOI: 10.2174/1389202919666171218163046
Virginia Corvino 1 , Pasqualina Apisa 1 , Rita Malesci 1 , Carla Laria 1 , Gennaro Auletta 1 , Annamaria Franzé 1, 2
Affiliation  

Sensorineural hearing loss is a very diffuse pathology (about 1/1000 born) with several types of transmission. X-linked hearing loss accounts for approximately 1% - 2% of cases of non-syndromic forms, as well as for many syndromic forms. To date, six loci (DFNX1-6) and five genes (PRPS1 for DFNX1, POU3F4 for DFNX2, SMPX for DFNX4, AIFM1 for DFNX5 and COL4A6 for DFNX6) have been identified for X-linked non-syndromic hearing loss. For the syndromic forms, at least 15 genes have been identified, some of which are also implicated in non-syndromic forms. Moreover, some syndromic forms, presenting large chromosomal deletions, are associated with mental retardation too. This review presents an overview of the currently known genes related to X-linked hearing loss with the support of the most recent literature. It summarizes the genetics and clinical features of X-linked hearing loss to give information useful to realize a clear genetic counseling and an early diagnosis. It is important to get an early diagnosis of these diseases to decide the investigations to predict the evolution of the disease and the onset of any other future symptoms. This information will be clearly useful for choosing the best therapeutic strategy. In particular, regarding audiological aspects, this review highlights risks and benefits currently known in some cases for specific therapeutic intervention.

中文翻译:


X 连锁感音神经性听力损失:文献综述



感音神经性听力损失是一种非常分散的病理学(约 1/1000 出生),具有多种传播类型。 X 连锁听力损失约占非综合征型以及许多综合征型病例的 1% - 2%。迄今为止,已确定 X 连锁非综合征性听力损失的 6 个基因座 (DFNX1-6) 和 5 个基因(DFNX1 的 PRPS1、DFNX2 的 POU3F4、DFNX4 的 SMPX、DFNX5 的 AIFM1 和 DFNX6 的 COL4A6)。对于综合征形式,至少有 15 个基因已被鉴定,其中一些也与非综合征形式有关。此外,一些存在大量染色体缺失的综合征形式也与智力低下有关。这篇综述在最新文献的支持下,概述了目前已知的与 X 连锁听力损失相关的基因。它总结了 X 连锁听力损失的遗传学和临床特征,为实现明确的遗传咨询和早期诊断提供有用的信息。重要的是对这些疾病进行早期诊断,以决定进行研究以预测疾病的演变和任何其他未来症状的发作。这些信息对于选择最佳治疗策略显然很有用。特别是,关于听力学方面,本综述强调了目前已知的某些情况下特定治疗干预的风险和益处。
更新日期:2018-06-01
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