A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family

被引:0
|
作者
Ting Wu
Limei Cui
Yakui Mou
Wentao Guo
Dawei Liu
Jingjing Qiu
Cong Xu
Jiamin Zhou
Fengchan Han
Yan Sun
机构
[1] Qingdao University,Department of Otorhinolaryngology Head and Neck Surgery
[2] The Affiliated Yantai Yuhuangding Hospital of Qingdao University,Key Laboratory for Genetic Hearing Disorders in Shandong
[3] Binzhou Medical University,Transformative Otology and Neuroscience Center
[4] Binzhou Medical University,undefined
来源
BMC Medical Genomics | / 15卷
关键词
Hearing loss; SLC26A4; Mutation; c.2168A > G; c.2029C > T; Enlarged vestibular aqueduct;
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
  • [21] Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct
    Shasha Huang
    Dongyi Han
    Yongyi Yuan
    Guojian Wang
    Dongyang Kang
    Xin Zhang
    Xiaofei Yan
    Xiaoxiao Meng
    Min Dong
    Pu Dai
    Journal of Translational Medicine, 9
  • [22] SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct
    Jiandong Zhao
    Yongyi Yuan
    Jing Chen
    Shasha Huang
    Guojian Wang
    Dongyi Han
    Pu Dai
    Journal of Translational Medicine, 10
  • [23] Clinical Phenotypic Characterization of the SLC26A4 Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct
    Zhuang, Boxiang
    Du, Haiqiao
    Chen, Chenyu
    Li, Menghua
    Kang, Shuoshuo
    Wang, Qian
    Wang, Shuwei
    Guo, Weiwei
    Lin, Chang
    Li, Jianan
    Yang, Shiming
    Wang, Rong
    LARYNGOSCOPE, 2025, 135 (02) : 848 - 856
  • [24] Preimplantation Genetic Diagnosis (Embryo Screening) for Enlarged Vestibular Aqueduct due to SLC26A4 Mutation
    Wu, Chen-Chi
    Lin, Shin-Yu
    Su, Yi-Nin
    Fang, Mei-Ya
    Chen, Shee-Uan
    Hsu, Chuan-Jen
    AUDIOLOGY AND NEURO-OTOLOGY, 2010, 15 (05) : 311 - 317
  • [25] SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct
    Taku Ito
    Julie Muskett
    Parna Chattaraj
    Byung Yoon Choi
    Kyu Yup Lee
    Christopher K Zalewski
    Kelly A King
    Xiangming Li
    Philine Wangemann
    Thomas Shawker
    Carmen C Brewer
    Seth L Alper
    Andrew J Griffith
    World Journal of Otorhinolaryngology, 2013, 3 (02) : 26 - 34
  • [26] Hearing Loss Associated With Enlarged Vestibular Aqueduct and Zero or One Mutant Allele of SLC26A4
    Rose, Jane
    Muskett, Julie A.
    King, Kelly A.
    Zalewski, Christopher K.
    Chattaraj, Parna
    Butman, John A.
    Kenna, Margaret A.
    Chien, Wade W.
    Brewer, Carmen C.
    Griffith, Andrew J.
    LARYNGOSCOPE, 2017, 127 (07) : E238 - E243
  • [27] The c.-103T > C Variant in the 5′-ATR of SLC26A4 Gene: A Pathogenic Mutation or Coincidental Polymorphism?
    Yang, Tao
    Smith, Richard J. H.
    HUMAN MUTATION, 2009, 30 (10) : 1469 - 1470
  • [28] Response to: The c.-103T > C Variant in the 5′-ATR of SLC26A4 Gene: A Pathogenic Mutation or Coincidental Polymorphism?
    Choi, Byung Yoon
    Alper, Seth L.
    Griffith, Andrew J.
    HUMAN MUTATION, 2009, 30 (10) : 1471 - 1471
  • [29] Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts
    Landa, Priya
    Differ, Ann-Marie
    Rajput, Kaukab
    Jenkins, Lucy
    Bitner-Glindzicz, Maria
    BMC MEDICAL GENETICS, 2013, 14
  • [30] Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene
    Tian, Yongan
    Xu, Hongen
    Liu, Danhua
    Zhang, Juanli
    Yang, Zengguang
    Zhang, Sen
    Liu, Huanfei
    Li, Ruijun
    Tian, Yingtao
    Zeng, Beiping
    Li, Tong
    Lin, Qianyu
    Wang, Haili
    Li, Xiaohua
    Lu, Wei
    Shi, Ying
    Zhang, Yan
    Zhang, Hui
    Jiang, Chang
    Xu, Ying
    Chen, Bei
    Liu, Jun
    Tang, Wenxue
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (08):