Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss

被引：0
|
作者：
Guangxian Yang
Yi Yin
Zhiping Tan
Jian Liu
Xicheng Deng
Yifeng Yang
机构：
[1] Hunan Children’s Hospital,Department of Cardiothoracic Surgery
[2] The Second Xiangya Hospital of Central South University,Department of Cardiovascular Surgery
来源：
BMC Medical Genomics | / 14卷
关键词：
Townes-brocks syndrome; Hearing loss; SALL1 mutation; PTPRQ mutation;
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] Whole-exome sequencing identified a homozygous novel RAG1 mutation in a child with omenn syndrome
    Wang, Wendi
    Wang, Jian
    Wang, Jingjing
    Liu, Jingting
    Pei, Jianying
    Li, Wanyi
    Wang, Yanxia
    Banerjee, Santasree
    Xu, Ruifeng
    Meng, Zhaoyan
    Yi, Bin
    [J]. ALLERGOLOGIA ET IMMUNOPATHOLOGIA, 2022, 50 (06) : 32 - 46
  • [22] Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome
    Ghaedi, Hamid
    Ramsheh, Samira Molaei
    Omidvar, Maryam Erfanian
    Labbaf, Afsaneh
    Alehabib, Elham
    Akbari, Sanaz
    Pourfatemi, Fatemeh
    Darvish, Hossein
    [J]. GENES & DISEASES, 2020, 7 (04) : 614 - 619
  • [23] A novel mutation of MIP in a Chinese family with congenital nuclear cataract identified by whole-exome sequencing
    Liu, Shuaimei
    Zhu, Peiran
    Ni, Mengxia
    Zhang, Mingchao
    Jiang, Weijun
    Yu, Maomao
    Zhang, Jing
    Wu, Qiuyue
    Li, Weiwei
    Xue, Chunyan
    Xia, Xinyi
    [J]. OPHTHALMIC GENETICS, 2018, 39 (01) : 139 - 140
  • [24] Somatic Mosaicism for the SALL1 Mutation p.Ser371X in Full-Blown Townes-Brocks Syndrome With Duane Anomaly
    van den Akker, Peter C.
    van de Graaf, Raoul
    Dooijes, Dennis
    van Essen, Anthonie J.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (04) : 812 - 815
  • [25] Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes Syndrome
    Ke-Liang Chen
    He Wang
    Gui-Xian Zhao
    Lei Wei
    Yu-Yuan Huang
    Shi-Dong Chen
    Jian Sun
    Qiang Dong
    Mei Cui
    Jin-Tai Yu
    [J]. Journal of Molecular Neuroscience, 2022, 72 : 691 - 694
  • [26] Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes Syndrome
    Chen, Ke-Liang
    Wang, He
    Zhao, Gui-Xian
    Wei, Lei
    Huang, Yu-Yuan
    Chen, Shi-Dong
    Sun, Jian
    Dong, Qiang
    Cui, Mei
    Yu, Jin-Tai
    [J]. JOURNAL OF MOLECULAR NEUROSCIENCE, 2022, 72 (04) : 691 - 694
  • [27] Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome
    Wang, Zhao-Xia
    Liu, Yi-Hui
    Dong, Yi
    Li, Ya-Li
    Tang, Tie-Yu
    Fan, Liang-Liang
    [J]. BIOMED RESEARCH INTERNATIONAL, 2021, 2021
  • [28] Whole-exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family
    Lei, Cheng
    Guo, Ting
    Ding, Shuizi
    Liao, Liyan
    Peng, Hong
    Tan, Zhiping
    Luo, Hong
    [J]. MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (01):
  • [29] Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia:: Review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene
    Keegan, CE
    Mulliken, JB
    Wu, BL
    Korf, BR
    [J]. GENETICS IN MEDICINE, 2001, 3 (04) : 310 - 313
  • [30] Letter to Editor: Whole-exome Sequencing Identified a Novel Frameshift Mutation of Neurofibromin 1 in a Chinese Family with Neurofibromatosis Type 1
    Liu, Lv
    Qin, Jieli
    Luo, Hong
    [J]. ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2018, 48 (06): : 808 - 809
12345