Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss

被引:0
|
作者
Weixun Zhang
Jing Song
Busheng Tong
Mengye Ma
Luo Guo
Yasheng Yuan
Juanmei Yang
机构
[1] Fudan University,Department of Otology and Skull Base Surgery, Eye Ear Nose and Throat Hospital
[2] Shanghai Clinical Medical Center of Hearing Medicine,Research Institute of Otolaryngology
[3] Key Laboratory of Hearing Medicine of National Health Commission of the People’s Republic of China,Lateral Skull Base Diagnosis and Treatment Center, Eye Ear Nose and Throat Hospital
[4] Fudan University,Department of Otorhinolaryngology Head and Neck Surgery
[5] Fudan University,ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital
[6] First Affiliated Hospital of Anhui Medical University,undefined
[7] Fudan University,undefined
来源
关键词
DFNA10; Copy number variation (CNV); Deafness; Whole genome sequencing (WGS);
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [1] Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss
    Zhang, Weixun
    Song, Jing
    Tong, Busheng
    Ma, Mengye
    Guo, Luo
    Yuan, Yasheng
    Yang, Juanmei
    BMC MEDICAL GENOMICS, 2022, 15 (01)
  • [2] Identification of a novel missense eya4 mutation causing autosomal dominant non-syndromic hearing loss in a Chinese family
    Xiao, Shu-ying
    Qu, Jing
    Zhang, Qin
    Ao, Ting
    Zhang, Jun
    Zhang, Rui-hua
    CELLULAR AND MOLECULAR BIOLOGY, 2019, 65 (03) : 84 - 88
  • [3] A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss
    Su, Yu
    Tang, Wen-Xue
    Gao, Xue
    Yu, Fei
    Dai, Zhi-Yao
    Zhao, Jian-Dong
    Lu, Yu
    Ji, Fei
    Huang, Sha-Sha
    Yuan, Yong-Yi
    Han, Ming-Yu
    Song, Yue-Shuai
    Zhu, Yu-Hua
    Kang, Dong-Yang
    Han, Dong-Yi
    Dai, Pu
    PLOS ONE, 2014, 9 (02):
  • [4] Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report
    Varga, Lukas
    Danis, Daniel
    Skopkova, Martina
    Masindova, Ivica
    Slobodova, Zuzana
    Demesova, Lucia
    Profant, Milan
    Gasperikova, Daniela
    BMC MEDICAL GENETICS, 2019, 20
  • [5] Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss
    Ishino, Takashi
    Ogawa, Yui
    Sonoyama, Toru
    Taruya, Takayuki
    Kono, Takashi
    Hamamoto, Takao
    Ueda, Tsutomu
    Takeno, Sachio
    Moteki, Hideaki
    Nishio, Shin-ya
    Usami, Shin-ichi
    Nagano, Yuka
    Yoshimura, Akiko
    Yoshikawa, Kohei
    Kato, Mikako
    Ichimoto, Masaya
    Watanabe, Rina
    OTOLOGY & NEUROTOLOGY, 2021, 42 (07) : E866 - E874
  • [6] A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing
    Yi Sun
    Zhao Zhang
    Jing Cheng
    Yu Lu
    Chang-Liang Yang
    Yan-Yun Luo
    Guang Yang
    Hui Yang
    Li Zhu
    Jia Zhou
    Hang-Qi Yao
    Journal of Human Genetics, 2015, 60 : 299 - 304
  • [7] A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing
    Sun, Yi
    Zhang, Zhao
    Cheng, Jing
    Lu, Yu
    Yang, Chang-Liang
    Luo, Yan-Yun
    Yang, Guang
    Yang, Hui
    Zhu, Li
    Zhou, Jia
    Yao, Hang-Qi
    JOURNAL OF HUMAN GENETICS, 2015, 60 (06) : 299 - 304
  • [8] A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness
    Aiping Huang
    Yongyi Yuan
    Yanping Liu
    Qingwen Zhu
    Pu Dai
    Journal of Translational Medicine, 13
  • [9] A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness
    Huang, Aiping
    Yuan, Yongyi
    Liu, Yanping
    Zhu, Qingwen
    Dai, Pu
    JOURNAL OF TRANSLATIONAL MEDICINE, 2015, 13
  • [10] Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants
    Xue, Junfang
    Xie, Linyi
    Zheng, Qiuchen
    Xiong, Fen
    Wu, Xiedong
    Fan, Jialin
    Zhang, Yang
    Wang, Dayong
    Zhang, Qiujing
    Wang, Qiuju
    BMC MEDICAL GENOMICS, 2024, 17 (01)