Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss
Abstract Background Hereditary hearing loss is a heterogeneous class of disorders that exhibits various patterns of inheritance and involves many genes. Variants in the EYA4 gene in DFNA10 are known to lead to postlingual, progressive, autosomal dominant nonsyndromic hereditary hearing loss. Patient...
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BMC
2022-05-01
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| Series: | BMC Medical Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12920-022-01269-x |
| _version_ | 1811341313881145344 |
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| author | Weixun Zhang Jing Song Busheng Tong Mengye Ma Luo Guo Yasheng Yuan Juanmei Yang |
| author_facet | Weixun Zhang Jing Song Busheng Tong Mengye Ma Luo Guo Yasheng Yuan Juanmei Yang |
| author_sort | Weixun Zhang |
| collection | DOAJ |
| description | Abstract Background Hereditary hearing loss is a heterogeneous class of disorders that exhibits various patterns of inheritance and involves many genes. Variants in the EYA4 gene in DFNA10 are known to lead to postlingual, progressive, autosomal dominant nonsyndromic hereditary hearing loss. Patients and methods We collected a four-generation Chinese family with autosomal-dominant nonsyndromic hearing loss (ADNSHL). We applied targeted next-generation sequencing (TNGS) in three patients of this pedigree and whole-genome sequencing (WGS) in the proband. The intrafamilial cosegregation of the variant and the deafness phenotype were confirmed by PCR, gap-PCR and Sanger sequencing. Results A novel CNV deletion at 6q23 in exons 8–11 of the EYA4 gene with a 10 bp insertion was identified by TNGS and WGS and segregated with the ADNSHL phenotypes. Conclusions Our results expanded the variant spectrum and genotype‒phenotype correlation of the EYA4 gene and autosomal dominant nonsyndromic hereditary hearing loss in Chinese Han individuals. WGS is an accurate and effective method for verifying the genomic features of CNVs. |
| first_indexed | 2024-04-13T18:55:01Z |
| format | Article |
| id | doaj.art-ed5db3586bfb4cbdb792f077515afb09 |
| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-04-13T18:55:01Z |
| publishDate | 2022-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-ed5db3586bfb4cbdb792f077515afb092022-12-22T02:34:18ZengBMCBMC Medical Genomics1755-87942022-05-0115111210.1186/s12920-022-01269-xIdentification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing lossWeixun Zhang0Jing Song1Busheng Tong2Mengye Ma3Luo Guo4Yasheng Yuan5Juanmei Yang6Department of Otology and Skull Base Surgery, Eye Ear Nose and Throat Hospital, Fudan UniversityDepartment of Otology and Skull Base Surgery, Eye Ear Nose and Throat Hospital, Fudan UniversityDepartment of Otorhinolaryngology Head and Neck Surgery, First Affiliated Hospital of Anhui Medical UniversityDepartment of Otology and Skull Base Surgery, Eye Ear Nose and Throat Hospital, Fudan UniversityDepartment of Otology and Skull Base Surgery, Eye Ear Nose and Throat Hospital, Fudan UniversityDepartment of Otology and Skull Base Surgery, Eye Ear Nose and Throat Hospital, Fudan UniversityDepartment of Otology and Skull Base Surgery, Eye Ear Nose and Throat Hospital, Fudan UniversityAbstract Background Hereditary hearing loss is a heterogeneous class of disorders that exhibits various patterns of inheritance and involves many genes. Variants in the EYA4 gene in DFNA10 are known to lead to postlingual, progressive, autosomal dominant nonsyndromic hereditary hearing loss. Patients and methods We collected a four-generation Chinese family with autosomal-dominant nonsyndromic hearing loss (ADNSHL). We applied targeted next-generation sequencing (TNGS) in three patients of this pedigree and whole-genome sequencing (WGS) in the proband. The intrafamilial cosegregation of the variant and the deafness phenotype were confirmed by PCR, gap-PCR and Sanger sequencing. Results A novel CNV deletion at 6q23 in exons 8–11 of the EYA4 gene with a 10 bp insertion was identified by TNGS and WGS and segregated with the ADNSHL phenotypes. Conclusions Our results expanded the variant spectrum and genotype‒phenotype correlation of the EYA4 gene and autosomal dominant nonsyndromic hereditary hearing loss in Chinese Han individuals. WGS is an accurate and effective method for verifying the genomic features of CNVs.https://doi.org/10.1186/s12920-022-01269-xEYA4DFNA10Copy number variation (CNV)DeafnessWhole genome sequencing (WGS) |
| spellingShingle | Weixun Zhang Jing Song Busheng Tong Mengye Ma Luo Guo Yasheng Yuan Juanmei Yang Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss BMC Medical Genomics EYA4 DFNA10 Copy number variation (CNV) Deafness Whole genome sequencing (WGS) |
| title | Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss |
| title_full | Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss |
| title_fullStr | Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss |
| title_full_unstemmed | Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss |
| title_short | Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss |
| title_sort | identification of a novel cnv at the eya4 gene in a chinese family with autosomal dominant nonsyndromic hearing loss |
| topic | EYA4 DFNA10 Copy number variation (CNV) Deafness Whole genome sequencing (WGS) |
| url | https://doi.org/10.1186/s12920-022-01269-x |
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