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
来源：
PHARMACOGENOMICS & PERSONALIZED MEDICINE | 2021年 / 14卷
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
  • [31] The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations (vol 164, pg 1899, 2014)
    Wakamatsu, Nobuaki
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (06) : 1428 - 1428
  • [32] Genotype-phenotype analysis in Mowat-Wilson syndrome associated with two novel and two recurrent ZEB2 variants
    Zou, Dongfang
    Wang, Lin
    Wen, Feiqiu
    Xiao, Hongdou
    Duan, Jing
    Zhang, Tongda
    Yin, Zhenzhen
    Dong, Qiwen
    Guo, Jian
    Liao, Jianxiang
    EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2020, 20 (06)
  • [33] Identification of a new mutation in ZEB2 gene in a Ukrainian girl with Mowat- Wilson Syndrome
    Sharhorodska, Y.
    Dushar, M.
    Prokopchuk, N.
    Akopyan, H.
    Makukh, H.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1882 - 1882
  • [34] Novel ZEB2 Heterozygous Variant Identified at Autopsy in Mowat-Wilson Syndrome Patient with Rare Intracranial Spindle Cell
    Jaramillo, C.
    Berman, A.
    Fitzgerald, J.
    Xia, H.
    Gibbons, T.
    Clement, N.
    Brady, R.
    Adams, T.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2023, 25 (11): : S23 - S24
  • [35] 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)
  • [36] ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function
    Schuster, Jens
    Klar, Joakim
    Khalfallah, Ayda
    Laan, Loora
    Hoeber, Jan
    Fatima, Ambrin
    Sequeira, Velin Marita
    Jin, Zhe
    Korol, Sergiy V.
    Huss, Mikael
    Nordgren, Ann
    Anderlid, Britt Marie
    Gallant, Caroline
    Birnir, Bryndis
    Dahl, Niklas
    FRONTIERS IN MOLECULAR NEUROSCIENCE, 2022, 15
  • [37] 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
  • [38] Mowat-Wilson syndrome in a Chinese population: A case series
    Ho, Stephanie
    Luk, Ho-Ming
    Chung, Brian Hon-Yin
    Fung, Jasmine Lee-Fong
    Mak, Harriet Hang-Yee
    Lo, Ivan F. M.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (06) : 1336 - 1341
  • [39] Clinical utility gene card for: Mowat-Wilson syndrome
    Zollino, Marcella
    Garavelli, Livia
    Rauch, Anita
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (08) : 932 - 4
  • [40] 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
12345