TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

被引:0
|
作者
Xinmiao Fan
Yibei Wang
Yue Fan
Huiqian Du
Nana Luo
Shuyang Zhang
Xiaowei Chen
机构
[1] Peking Union Medical College Hospital,Department of Otolaryngology
[2] Peking Union Medical College and Chinese Academy of Medical Sciences,Department of Cardiology
[3] Allwegene Technology Inc,undefined
[4] Allwegene Technology Inc,undefined
[5] Peking Union Medical College Hospital,undefined
[6] Peking Union Medical College and Chinese Academy of Medical Sciences,undefined
来源
Orphanet Journal of Rare Diseases | / 14卷
关键词
Treacher Collins syndrome (TCS); Whole-exome sequencing; Bone conduction hearing rehabilitation;
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 47 条
  • [31] Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification Case series
    Long, Xigui
    Li, Zhuo
    Huang, Yanru
    Zhang, Li
    Lv, Weigang
    Teng, Yanling
    Linpeng, Siyuan
    Liang, Desheng
    Wu, Lingqian
    MEDICINE, 2019, 98 (20)
  • [32] Identification of Three FBN1 Mutations in Chinese Patients with Typical or Incomplete Marfan Syndrome by Whole-Exome Sequencing
    Fang, Guangming
    Miao, Jinxin
    Peng, Ying
    Zhai, Yafei
    Wang, Chuchu
    Zhao, Xiaoyan
    Wang, Yaohe
    Dong, Jianzeng
    CARDIOVASCULAR INNOVATIONS AND APPLICATIONS, 2020, 5 (01) : 19 - 26
  • [33] Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus
    Li, Meng
    Fu, Huayu
    Li, Jiao
    Meng, Dahua
    Zhang, Qiang
    Fei, Dongmei
    JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH, 2022, 48 (10) : 2624 - 2629
  • [34] Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report
    Hu, Ming
    Chen, Shuang
    Wu, Jinyuan
    Wang, Rong
    BMC PEDIATRICS, 2024, 24 (01)
  • [35] Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders
    Koyama, Shingo
    Sato, Hidenori
    Wada, Manabu
    Kawanami, Toru
    Emi, Mitsuru
    Kato, Takeo
    BMC MEDICAL GENETICS, 2017, 18
  • [36] Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women
    Yu, Yan
    Lu, Bingjian
    Lu, Weiguo
    Li, Shuang
    Li, Xiuqin
    Wang, Xinyu
    Wan, Xiaoyun
    Chen, Yaxia
    Feng, Suwen
    Jia, Yao
    Yang, Ru
    Tang, Fangxu
    Li, Xiong
    Zhang, Shulan
    Wang, Xinyan
    Wei, Heng
    Peng, Zhilan
    Lu, Lin
    Zhong, Huizhen
    Zhao, Linjun
    Huang, Zhangqian
    Lin, Lin
    Shen, Weihong
    Lu, Yan
    Cao, Zhu
    Zou, Jian
    Ma, Yuejiang
    Chen, Xiaojing
    Tian, Qifang
    Lu, Shiming
    Liu, Pengyuan
    Ma, Ding
    Xie, Xing
    Cheng, Xiaodong
    ONCOTARGET, 2017, 8 (43) : 75264 - 75271
  • [37] Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified
    Karakaya, Cengiz
    Cil, Aylin Pelin
    Bilguvar, Kaya
    Cakir, Tunahan
    Karalok, Mete Hakan
    Karabacak, Recep Onur
    Caglayan, Ahmet Okay
    JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH, 2022, 48 (05) : 1202 - 1211
  • [38] Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome
    Kocaaga, Ayca
    Yimenicioglu, Sevgi
    Gursoy, Haluk Huseyin
    INDIAN JOURNAL OF OPHTHALMOLOGY, 2022, 70 (07) : 2762 - 2764
  • [39] Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data
    Gianferante, D. Matthew
    Rotunno, Melissa
    Dean, Michael
    Zhou, Weiyin
    Hicks, Belynda D.
    Wyatt, Kathleen
    Jones, Kristine
    Wang, Mingyi
    Zhu, Bin
    Goldstein, Alisa M.
    Mirabello, Lisa
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2018, 6 (06): : 1168 - 1180
  • [40] Identification of two novel pathogenic variants ofPIBF1by whole exome sequencing in a 2-year-old boy with Joubert syndrome
    Shen, Yue
    Wang, Hao
    Liu, Zhimin
    Luo, Minna
    Ma, Siyu
    Lu, Chao
    Cao, Zongfu
    Yu, Yufei
    Cai, Ruikun
    Chen, Cuixia
    Li, Qian
    Gao, Huafang
    Peng, Yun
    Xu, Baoping
    Ma, Xu
    BMC MEDICAL GENETICS, 2020, 21 (01)