A Chinese Boy with Mowat-Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene

被引:4
作者
Wei, Lin [1 ]
Han, Xiao [2 ]
Li, Xue [1 ]
Han, Bingjuan [1 ]
Nie, Wenying [1 ]
机构
[1] Shandong First Med Univ, Jinan Maternal & Child Care Hosp, Jinan Matern & Child Care Hosp, Jinan 250001, Shandong, Peoples R China
[2] Shandong Univ, Jinan Cent Hosp, Cheeloo Coll Med, Jinan 250012, Shandong, Peoples R China
关键词
Mowat-Wilson syndrome; ZEB2; gene mutation; phenotype; SMAD-INTERACTING PROTEIN-1; HIRSCHSPRUNG-DISEASE; MENTAL-RETARDATION; MUTATIONS; PHENOTYPE; FEATURES; ZFHX1B; GENE;
D O I
10.2147/PGPM.S320128
中图分类号
R9 [药学];
学科分类号
1007 ;
摘要
Mowat-Wilson syndrome, ZEB2, gene mutation, phenotype
引用
收藏
页码:1041 / 1045
页数:5
相关论文
共 50 条
  • [21] Mowat-Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions
    St. Peter, Caroline
    Hossain, Waheeda A.
    Lovell, Scott
    Rafi, Syed K.
    Butler, Merlin G.
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2024, 25 (05)
  • [22] Expanding the Genetic and Phenotypic Spectrum of Mowat-Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion
    Kablan, Ahmet
    Aru, Esma Erturkmen
    Atar, Suleyman
    Gumus, Aydeniz Aydin
    Ili, Ezgi Gokpinar
    Kayhan, Gulsum
    Tekin, Koray
    Silan, Fatma
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2025, 197 (03)
  • [23] Mowat-Wilson syndrome factor ZEB2 controls early formation of human neural crest through BMP signaling modulation
    Charney, Rebekah M.
    Prasad, Maneeshi S.
    Juan-Sing, Czarina
    Patel, Lipsa J.
    Hernandez, Jacqueline C.
    Wu, Jie
    Garcia-Castro, Martin I.
    STEM CELL REPORTS, 2023, 18 (11): : 2254 - 2267
  • [24] Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development
    Wei, Wen
    Liu, Bin
    Jiang, Haisong
    Jin, Kangxin
    Xiang, Mengqing
    MOLECULAR NEUROBIOLOGY, 2019, 56 (03) : 1719 - 1736
  • [25] Identification of MMACHC and ZEB2 mutations causing coexistent cobalamin C disease and Mowat-Wilson syndrome in a 2-year-old girl
    Liu, Fang
    Wu, Yuanyuan
    Li, Zhi
    Wan, Ruihua
    CLINICA CHIMICA ACTA, 2022, 533 : 31 - 39
  • [26] Zeb2 DNA-Binding Sites in Neuroprogenitor Cells Reveal Autoregulation and Affirm Neurodevelopmental Defects, Including in Mowat-Wilson Syndrome
    Birkhoff, Judith C. C.
    Korporaal, Anne L. L.
    Brouwer, Rutger W. W.
    Nowosad, Karol
    Milazzo, Claudia
    Mouratidou, Lidia
    van den Hout, Mirjam C. G. N.
    van IJcken, Wilfred F. J.
    Huylebroeck, Danny
    Conidi, Andrea
    GENES, 2023, 14 (03)
  • [27] Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development
    Wen Wei
    Bin Liu
    Haisong Jiang
    Kangxin Jin
    Mengqing Xiang
    Molecular Neurobiology, 2019, 56 : 1719 - 1736
  • [28] A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes
    El-Kasti, Muna M.
    Wells, Timothy
    Carter, David A.
    HUMAN MOLECULAR GENETICS, 2012, 21 (26) : 5429 - 5442
  • [29] Deletion of 2q22.2q22.3 in Mowat-Wilson Syndrome: A Case Report and Review of the Literature
    Goyal, Manisha
    Faruq, Mohammed
    Gupta, Ashok
    Shrivastava, Divya
    Shamim, Uzma
    JOURNAL OF PEDIATRIC NEUROLOGY, 2022, 20 (06) : 440 - 444
  • [30] The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat-Wilson Syndrome
    Frith, Katie
    Munier, C. Mee Ling
    Hastings, Lucy
    Mowat, David
    Wilson, Meredith
    Seddiki, Nabila
    Macintosh, Rebecca
    Kelleher, Anthony D.
    Gray, Paul
    Zaunders, John James
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (10)