中华耳科学杂志2024，Vol.22Issue(1)：83-87,5.DOI:10.3969/j.issn.1672-2922.2024.01.019
全外测序联合拷贝数变异检测在遗传性耳聋的应用
Whole Exon Sequencing Combined with Copy Number Variation Detection for Hereditary Deafness
摘要
Abstract
Objective To determine the value of whole exon sequencing(WES)combined with copy number vari-ation(CNV)detection in diagnosis of hereditary deafness,and to further understanding of CNV.Methods A child with binaural moderate sensorineural hearing loss without a family history of genetic disorders or a history of ototoxic medi-cation was admitted to our department.Endoscopy,imaging,subjective and objective audiologic examinations were completed.Peripheral blood samples were collected,and WES was performed to identify the cause of the child's deaf-ness,with the target sequence confirmed by multiple ligation-dependent probe amplification(MLPA).Results Audio-metric,ABR and ASSR thresholds indicated moderate sensorineural deafness.WES showed 12 homozygous variants lo-cated in chromosomes 1(CR1 gene,splice-20),5(ZSWIM6 gene and SMN1 gene,coding-synon),and 6(ATXN1 gene,cds-del;TENT5A,cds-ins),7(CFTR gene,intron),8(TG,promoter),9(PRDM12 gene,cds-del),10(TUBGCP2 gene,splice+20),11(TENM4 gene,splice+20),15(STRC gene,deletion)and 16(ABCC11 gene,missense).Based on ACMG guidelines and comprehensive history analysis,only the STRC gene variant(NM_153700.2:EX1-EX29E Del)was deter-mined to be pathogenic,while the rest variants were considered benign or potentially benign.The target sequence was verified by MLPA.Conclusion Deletion of DFNB16(OMIM:603720)in the STRC gene caused bilateral moderate sen-sorineural deafness in this case.In the clinic,a wide range of detection techniques at various levels can be selected for diagnosis purposes based on the patient's medical history.Such knowledge can enhance the understanding of CNV and its relations to hereditary deafness among otologists.关键词
全外显子测序/拷贝数变异/感音神经性耳聋/多重链接探针扩增技术Key words
whole exon sequencing/copy number variation/sensorineural deafness/multiple ligation-dependent probe amplification引用本文复制引用
张远辉,林颖,陈艺文,刘小萍,于锋..全外测序联合拷贝数变异检测在遗传性耳聋的应用[J].中华耳科学杂志,2024,22(1):83-87,5.基金项目
广州市科技计划项目(2023A03J0520,2023A03J0521) （2023A03J0520,2023A03J0521）
广州市临床高新技术项目(2023C-GX05,2019GX08) （2023C-GX05,2019GX08）
