Identification of novel biallelic LRRC6 variants in male Chinese patients with primary ciliary dyskinesia and infertility

被引:0
|
作者
Yunhao Li
Yong Li
Ying Wang
Lanlan Meng
Chen Tan
Juan Du
Yue-Qiu Tan
Hongchuan Nie
Qianjun Zhang
Guangxiu Lu
Ge Lin
Huanzhu Li
Huan Zhang
Chaofeng Tu
机构
[1] Hunan Normal University,Hunan Guangxiu Hospital
[2] Central South University,Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Science
[3] Reproductive and Genetic Hospital of CITIC-Xiangya,Clinical Research Center for Reproduction and Genetics in Hunan Province
[4] Hunan Normal University,College of Life Sciences
关键词
Primary ciliary dyskinesia; Male infertility; variant; Sperm flagella;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:41 / 51
页数:10
相关论文
共 50 条
  • [41] Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia
    Ye, Yutian
    Huang, Qijun
    Chen, Lipeng
    Yuan, Fang
    Liu, Shengguo
    Zhang, Xiangxia
    Chen, Rongchang
    Fu, Yingyun
    Yue, Yongjian
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (10) : 3024 - 3031
  • [42] Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia
    Bustamante-Marin, Ximena M.
    Shapiro, Adam
    Sears, Patrick R.
    Charng, Wu-Lin
    Conrad, Donald F.
    Leigh, Margaret W.
    Knowles, Michael R.
    Ostrowski, Lawrence E.
    Zariwala, Maimoona A.
    JOURNAL OF HUMAN GENETICS, 2020, 65 (02) : 175 - 180
  • [43] Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia
    Ximena M. Bustamante-Marin
    Adam Shapiro
    Patrick R. Sears
    Wu-Lin Charng
    Donald F. Conrad
    Margaret W. Leigh
    Michael R. Knowles
    Lawrence E. Ostrowski
    Maimoona A. Zariwala
    Journal of Human Genetics, 2020, 65 : 175 - 180
  • [44] Identification of biallelic variations of CEP70 in patients with male infertility
    Ruan, Tiechao
    Yang, Yihong
    Jiang, Chuan
    Shen, Gan
    Li, Dingming
    Shen, Ying
    FRONTIERS IN ENDOCRINOLOGY, 2023, 14
  • [45] PATIENTS WITH GENETIC VARIANTS OF UNKNOWN SIGNIFICANCE FOR PRIMARY CILIARY DYSKINESIA: A CASE SERIES
    Corpus, D. C.
    Do, P. C.
    Moua, J.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2020, 68 : A173 - A174
  • [46] Identification of a novel splice site mutation in the DNAAF4 gene of a Chinese patient with primary ciliary dyskinesia
    Xu, Yang
    Wang, Jing
    Liu, Ji-Hai
    Gao, Qing-Qiang
    Wang, Bing
    Xu, Zhi-Peng
    ASIAN JOURNAL OF ANDROLOGY, 2023, 25 (06) : 713 - +
  • [47] Novel compound heterozygous variants in DNAAF3 linked to primary ciliary dyskinesia
    Xu, Bei
    Huang, Xiangyuan
    Pan, Lei
    Zhang, Rui
    Wu, Yong
    QJM-AN INTERNATIONAL JOURNAL OF MEDICINE, 2025,
  • [48] Novel HYDIN variants associated with male infertility in two Chinese families
    Yu, Hui
    Shi, Xiao
    Shao, Zhongmei
    Geng, Hao
    Guo, Senzhao
    Li, Kuokuo
    Gu, Meng
    Xu, Chuan
    Gao, Yang
    Tan, Qing
    Duan, Zongliu
    Wu, Huan
    Hua, Rong
    Guo, Rui
    Wei, Zhaolian
    Zhou, Ping
    Cao, Yunxia
    He, Xiaojin
    Li, Liang
    Zhang, Xiaoping
    Lv, Mingrong
    FRONTIERS IN ENDOCRINOLOGY, 2023, 14
  • [49] Identification of a Novel OFD1 Variant in a Patient with Primary Ciliary Dyskinesia
    Yang, Binyi
    Lei, Cheng
    Yang, Danhui
    Lu, Chenyang
    Xu, Yingjie
    Wang, Lin
    Guo, Ting
    Wang, Rongchun
    Luo, Hong
    PHARMACOGENOMICS & PERSONALIZED MEDICINE, 2022, 15 : 697 - 704
  • [50] Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review
    Bo Peng
    Yong-hua Gao
    Jia-qi Xie
    Xiao-wen He
    Cong-cong Wang
    Jin-fu Xu
    Guo-jun Zhang
    Orphanet Journal of Rare Diseases, 17