Novel mutation in PAX3 gene in Waardenburg syndrome accompanied by unilateral macular degeneration

被引:0
|
作者
M Kozawa
H Kondo
T Tahira
K Hayashi
E Uchio
机构
[1] Fukuoka University School of Medicine,Department of Ophthalmology
[2] Research Center for Genetic Information,Division of Genome Analysis
[3] Medical Institute of Bioregulation,undefined
[4] Kyushu University,undefined
来源
Eye | 2009年 / 23卷
关键词
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:1619 / 1621
页数:2
相关论文
共 50 条
  • [41] MUTATIONS IN THE PAX3 GENE CAUSING WAARDENBURG SYNDROME TYPE-1 AND TYPE-2
    TASSABEHJI, M
    READ, AP
    NEWTON, VE
    PATTON, M
    GRUSS, P
    HARRIS, R
    STRACHAN, T
    NATURE GENETICS, 1993, 3 (01) : 26 - 30
  • [42] Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome
    Corry, Gareth N.
    Hendzel, Michael J.
    Underhill, D. Alan
    HUMAN MOLECULAR GENETICS, 2008, 17 (12) : 1825 - 1837
  • [43] Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea
    Jang, Mi-Ae
    Lee, Taeheon
    Lee, Junnam
    Cho, Eun-Hae
    Ki, Chang-Seok
    ANNALS OF LABORATORY MEDICINE, 2015, 35 (03) : 362 - 365
  • [44] Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations
    Jalilian, Nazanin
    Tabatabaiefar, Mohammad Amin
    Farhadi, Mohammad
    Bahrami, Tayeb
    Emamdjomeh, Hesam
    Noori-Daloii, Mohammad Reza
    GENE, 2015, 574 (02) : 302 - 307
  • [45] PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1
    Wang, Juan
    Li, Shiqiang
    Xiao, Xueshan
    Wang, Panfeng
    Guo, Xiangming
    Zhang, Qingjiong
    MOLECULAR VISION, 2010, 16 (126-27): : 1146 - 1153
  • [46] A novel noncanonical splicing pathogenic variant in PAX3 associated with Waardenburg Syndrome type 1 in an Iranian family
    Mohsen Soosanabadi
    Sajjad Biglari
    Sahar Bayat
    Tahereh Ghorashi
    Atefeh Sohanforooshan Moghaddam
    Milad Gholami
    Egyptian Journal of Medical Human Genetics, 26 (1)
  • [47] Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome
    Yu, Yongbo
    Liu, Wei
    Chen, Min
    Yang, Yang
    Yang, Yeran
    Hong, Enyu
    Lu, Jie
    Zheng, Jun
    Ni, Xin
    Guo, Yongli
    Zhang, Jie
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (05):
  • [48] Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome
    Wollnik, B
    Tukel, T
    Uyguner, O
    Ghanbari, A
    Kayserili, H
    Emiroglu, M
    Yuksel-Apak, M
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 122A (01): : 42 - 45
  • [49] Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1
    Morell, R
    Carey, ML
    Lalwani, AK
    Friedman, TB
    Asher, JH
    HUMAN HEREDITY, 1997, 47 (01) : 38 - 41
  • [50] Loading of PAX3 to Mitotic Chromosomes Is Mediated by Arginine Methylation and Associated with Waardenburg Syndrome
    Wu, Tsu-Fang
    Yao, Ya-Li
    Lai, I-Lu
    Lai, Chien-Chen
    Lin, Pei-Lun
    Yang, Wen-Ming
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2015, 290 (33) : 20556 - 20564