{"title":"先天性听力损失 - 在英格兰引入 R67 大基因面板。","authors":"Ahmed Fazili, Hannah Blanchford, Kostas Tsioulos","doi":"10.1017/S0022215124001348","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Congenital hearing loss is a chronic condition which occurs worldwide. In the past, investigations focused on testing the most common genes associated with hearing loss (such as Connexin 26-related hearing loss). Targeted testing of specific genes was requested only when a particular syndrome was suspected. Recent advances have led to the development of a large gene panel which utilises next-generation sequencing to simultaneously test for pathogenic variants in many genes associated with hearing loss.</p><p><strong>Aim: </strong>This review article aims to highlight the changes in the approach to congenital hearing loss in the context of the R67 gene panel, and how its use may increase the efficiency of the diagnosis and management of this condition.</p><p><strong>Conclusion: </strong>The use of this large gene panel has revolutionised the approach to hearing loss. Uptake of this large gene panel has resulted in prompter diagnosis and therefore more appropriate clinical management.</p>","PeriodicalId":16293,"journal":{"name":"Journal of Laryngology and Otology","volume":" ","pages":"1-5"},"PeriodicalIF":1.1000,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Congenital hearing loss: introduction of the R67 large gene panel in England.\",\"authors\":\"Ahmed Fazili, Hannah Blanchford, Kostas Tsioulos\",\"doi\":\"10.1017/S0022215124001348\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Congenital hearing loss is a chronic condition which occurs worldwide. In the past, investigations focused on testing the most common genes associated with hearing loss (such as Connexin 26-related hearing loss). Targeted testing of specific genes was requested only when a particular syndrome was suspected. Recent advances have led to the development of a large gene panel which utilises next-generation sequencing to simultaneously test for pathogenic variants in many genes associated with hearing loss.</p><p><strong>Aim: </strong>This review article aims to highlight the changes in the approach to congenital hearing loss in the context of the R67 gene panel, and how its use may increase the efficiency of the diagnosis and management of this condition.</p><p><strong>Conclusion: </strong>The use of this large gene panel has revolutionised the approach to hearing loss. Uptake of this large gene panel has resulted in prompter diagnosis and therefore more appropriate clinical management.</p>\",\"PeriodicalId\":16293,\"journal\":{\"name\":\"Journal of Laryngology and Otology\",\"volume\":\" \",\"pages\":\"1-5\"},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2024-10-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Laryngology and Otology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1017/S0022215124001348\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"OTORHINOLARYNGOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Laryngology and Otology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1017/S0022215124001348","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"OTORHINOLARYNGOLOGY","Score":null,"Total":0}
Congenital hearing loss: introduction of the R67 large gene panel in England.
Background: Congenital hearing loss is a chronic condition which occurs worldwide. In the past, investigations focused on testing the most common genes associated with hearing loss (such as Connexin 26-related hearing loss). Targeted testing of specific genes was requested only when a particular syndrome was suspected. Recent advances have led to the development of a large gene panel which utilises next-generation sequencing to simultaneously test for pathogenic variants in many genes associated with hearing loss.
Aim: This review article aims to highlight the changes in the approach to congenital hearing loss in the context of the R67 gene panel, and how its use may increase the efficiency of the diagnosis and management of this condition.
Conclusion: The use of this large gene panel has revolutionised the approach to hearing loss. Uptake of this large gene panel has resulted in prompter diagnosis and therefore more appropriate clinical management.
期刊介绍：
The Journal of Laryngology & Otology (JLO) is a leading, monthly journal containing original scientific articles and clinical records in otology, rhinology, laryngology and related specialties. Founded in 1887, JLO is absorbing reading for ENT specialists and trainees. The journal has an international outlook with contributions from around the world, relevant to all specialists in this area regardless of the country in which they practise. JLO contains main articles (original, review and historical), case reports and short reports as well as radiology, pathology or oncology in focus, a selection of abstracts, book reviews, letters to the editor, general notes and calendar, operative surgery techniques, and occasional supplements. It is fully illustrated and has become a definitive reference source in this fast-moving subject area. Published monthly an annual subscription is excellent value for money. Included in the subscription is access to the JLO interactive web site with searchable abstract database of the journal archive back to 1887.
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