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首页> 外文期刊>The Laryngoscope: A Medical Journal for Clinical and Research Contributions in Otolaryngology, Head and Neck Medicine and Surgery, Facial Plastic and Reconstructive Surgery .. >Identification of a Novel CNV at 8q13 in a Family With Branchio‐Oto‐Renal Syndrome and Epilepsy
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Identification of a Novel CNV at 8q13 in a Family With Branchio‐Oto‐Renal Syndrome and Epilepsy

机译：鉴定分支 - 耳肾综合征和癫痫患者在家庭8季度的新型CNV

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Objectives Branchio‐oto‐renal (BOR) syndrome is characterized by branchial defects, hearing loss, preauricular pits, and renal anomalies, whereas patients with all symptoms except renal defects are diagnosed as branchio‐oto (BO) syndrome. BOR/BO is one of the most common forms of autosomal dominant syndromic hearing loss, and EYA1 is the major causative gene. In this study, clinical and genetic analyses as well as auditory rehabilitation were performed in a Chinese family with BOR/BO syndrome. Methods Three affected individuals from a Chinese family were analyzed by whole exome sequencing (WES) to analyze the single nucleotide variants and copy number variations (CNVs). Whole genome sequencing was used to identify the breakpoints of CNVs; and quantitative polymerase chain reaction was utilized to verify the CNVs. Furthermore, cochlea implantation was performed in one patient to reconstruct hearing. Results A heterozygous 2.69?Mb deletion at chromosome 8q13 (chr8: 69582185‐72275725) cosegregates with the BOR/BO symptoms in this family, resulting in heterozygous loss of the EYA1 gene. In addition to typical BOR/BO symptoms, epilepsy or gastroesophageal reflux was observed in some patients. Cochlear implantation resulted in significant hearing improvement in one patient. Conclusions A novel deletion involving the whole EYA1 gene was identified by WES. To the best of our knowledge, epilepsy or gastroesophageal reflux was reported in BOR/BO patients for the first time, which expanded the BOR/BO phenotypes spectrum. Successful auditory rehabilitation can be achieved with cochlear implantations in some BOR/BO patients. Level of Evidence 4 Laryngoscope , 130:526–532, 2020
机译：目的分支 - 耳肾（BOR）综合征的特征在于分支缺陷，听力损失，初始坑和肾异常，而除肾缺陷外的所有症状的患者被诊断为BRASTIO-OTO（BO）综合征。 Bor / Bo是最常见的常规常规综合征综合征听力损失之一，而Eya1是主要的致病基因。在这项研究中，用Bor / Bo综合征在中国家庭中进行了临床和遗传分析以及听觉康复。方法通过全外壳测序（WES）分析来自中国家庭的三个受影响的个体，分析单个核苷酸变体和拷贝数变异（CNV）。全基因组测序用于鉴定CNVS的断裂点;使用定量聚合酶链反应来验证CNVS。此外，在一个患者中进行耳蜗植入以重建听力。结果在染色体8Q13中杂合2.69？MB缺失（CHR8：69582185-72275725）在该家庭中具有Bor / Bo症状的CoSegregates，导致EyA1基因的杂合损失。除了典型的Bor / Bo症状，在一些患者中观察到癫痫或胃食管反流。耳蜗植入导致一个患者的听力改善。结论WES鉴定了涉及整个EyA1基因的新型缺失。据我们所知，Bor / Bo患者首次在Bor / Bo患者中报告了癫痫或胃食管反流，这扩大了Bor / Bo表型谱。在一些BOR / BO患者中，可以通过耳蜗植入实现成功的听觉康复。证据水平4喉镜，130：526-532,2020

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