Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
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DOI：
10.3390/genes11121467
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发表时间：
2020-12-07
期刊：
影响因子：
3.5
通讯作者：
Aller E
中科院分区：
文献类型：
--
作者：
García-García G;Berzal-Serrano A;García-Díaz P;Villanova-Aparisi R;Juárez-Rodríguez S;de Paula-Vernetta C;Cavallé-Garrido L;Jaijo T;Armengot-Carceller M;Millán JM;Aller E
来自118个家庭的128名被诊断为非综合征性或综合征性听力损失（HL）的患者进行了详尽的临床评估。使用靶向下一代测序（NGS）和包括59个与非综合征HL或综合征HL相关的基因的定制组进行分子分析。根据最小等位基因频率对变体进行优先排序，并根据美国医学遗传学和基因组学学会指南进行分类。在40%的家族中检测到导致该疾病的变异，包括常染色体隐性（AR）、常染色体显性（AD）和X连锁遗传模式。我们在26个不同的基因中鉴定了致病性或可能致病的变体，其中15个具有AR遗传模式，9个具有AD，2个是X连锁的。发现的14种变体是新的。这项研究强调了靶向NGS治疗感音神经性听力损失的临床实用性。HL的最佳组必须根据给定人群中最具代表性的基因谱和考虑医疗保健压力的实验室能力来设计。
A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was performed using targeted next-generation sequencing (NGS) with a custom panel that included 59 genes associated with non-syndromic HL or syndromic HL. Variants were prioritized according to the minimum allele frequency and classified according to the American College of Medical Genetics and Genomics guidelines. Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal dominant (AD) and X-linked patterns of inheritance. We identified pathogenic or likely pathogenic variants in 26 different genes, 15 with AR inheritance pattern, 9 with AD and 2 that are X-linked. Fourteen of the found variants are novel. This study highlights the clinical utility of targeted NGS for sensorineural hearing loss. The optimal panel for HL must be designed according to the spectrum of the most represented genes in a given population and the laboratory capabilities considering the pressure on healthcare.
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