Clinical Characteristics and Novel ZEB2 Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome

References

• Ayyildiz Emecen D, Isik E, Utine GE, et al. Clinical and molecular spectrum of four patients diagnosed with Mowat-Wilson syndrome. Mol Syndromol. 2020;11(5–6):296–301. doi:10.1159/000511609
   PubMed Web of Science ®Google Scholar
• Garavelli L, Mainardi PC. Mowat-Wilson syndrome. Orphanet J Rare Dis. 2007;2(1):42. doi:10.1186/1750-1172-2-42
   PubMedGoogle Scholar
• Ho S, Luk HM, Chung BH, et al. Mowat-Wilson syndrome in a Chinese population: a case series. Am J Med Genet A. 2020;182(6):1336–1341. doi:10.1002/ajmg.a.61557
   PubMed Web of Science ®Google Scholar
• Liu F, Wu Y, Li Z, et al. Identification of MMACHC and ZEB2 mutations causing coexistent cobalamin C disease and Mowat-Wilson syndrome in a 2-year-old girl. Clin Chim Acta. 2022;533:31–39. doi:10.1016/j.cca.2022.06.004
   PubMed Web of Science ®Google Scholar
• Birkhoff JC, Huylebroeck D, Conidi A. ZEB2, the Mowat-Wilson syndrome transcription factor: confirmations, novel functions, and continuing surprises. Genes. 2021;12(7):1037. doi:10.3390/genes12071037
   PubMed Web of Science ®Google Scholar
• Garavelli L, Ivanovski I, Caraffi SG, et al. Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients. Genet Med. 2017;19(6):691–700. doi:10.1038/gim.2016.176
   PubMed Web of Science ®Google Scholar
• Wakamatsu N, Yamada Y, Yamada K, et al. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nat Genet. 2001;27(4):369–370. doi:10.1038/86860
   PubMed Web of Science ®Google Scholar
• Cacheux V, Dastot-le MF, Kaariainen H, et al. Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. Hum Mol Genet. 2001;10(14):1503–1510. doi:10.1093/hmg/10.14.1503
   PubMed Web of Science ®Google Scholar
• Mowat DR, Croaker GD, Cass DT, et al. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J Med Genet. 1998;35(8):617–623. doi:10.1136/jmg.35.8.617
   PubMed Web of Science ®Google Scholar
• Ghoumid J, Drevillon L, Alavi-Naini SM, et al. ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. Hum Mol Genet. 2013;22(13):2652–2661. doi:10.1093/hmg/ddt114
   PubMed Web of Science ®Google Scholar
• Fu Y, Xu W, Wang Q, et al. Three Novel De Novo ZEB2 variants identified in three unrelated Chinese patients with Mowat-Wilson syndrome and a systematic review. Front Genet. 2022;13:853183.
   PubMed Web of Science ®Google Scholar
• Wei L, Han X, Li X, et al. A Chinese Boy with Mowat-Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 gene. Pharmgenomics Pers Med. 2021;14:1041–1045. doi:10.2147/PGPM.S320128
   PubMed Web of Science ®Google Scholar
• Zou D, Wang L, Wen F, et al. Genotype-phenotype analysis in Mowat-Wilson syndrome associated with two novel and two recurrent ZEB2 variants. Exp Ther Med. 2020;20(6):263. doi:10.3892/etm.2020.9393
   PubMed Web of Science ®Google Scholar
• Moore SW, Fieggen K, Honey E, et al. Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS). J Pediatr Surg. 2016;51(2):268–271. doi:10.1016/j.jpedsurg.2015.10.070
   PubMed Web of Science ®Google Scholar
• Ju Y, Ji TY. Clinical characteristics of epilepsy in 5 patients with Mowat-Wilson syndrome. Chin J Pediatr. 2022;60(6):5.
   Google Scholar
• She MC, Zhao ZH, Shi PL, et al. Genetic analysis of a patient with Mowat-Wilson syndrome caused by nonsense mutation of ZEB2 gene. Chin J Med Genet. 2022;39(8):889–892. doi:10.3760/cma.j.cn511374-20210510-00393
   Google Scholar
• Zhou TC, Wang YC, Liang D, et al. Clinical characteristics and gene analysis of three children with Mowat-Wilson syndrome. Chin J Med Genet. 2022;39(9):944–948. doi:10.3760/cma.j.cn511374-20210829-00703
   Google Scholar
• Wang H, Yan YC, Li X, et al. Clinical characteristics and genetic analysis of 3 children with Mowat-Wilson syndrome. Chin J Contemp Pediatr. 2019;21(05):468–473. doi:10.7499/j.issn.1008-8830.2019.05.014
   Google Scholar
• Coyle D, Puri P. Hirschsprung’s disease in children with Mowat-Wilson syndrome. Pediatr Surg Int. 2015;31(8):711–717. doi:10.1007/s00383-015-3732-x
   PubMed Web of Science ®Google Scholar
• Cordelli DM, Garavelli L, Savasta S, et al. Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. Am J Med Genet A. 2013;161A(2):273–284. doi:10.1002/ajmg.a.35717
   PubMed Web of Science ®Google Scholar
• Ivanovski I, Djuric O, Caraffi SG, et al. Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care. Genet Med. 2018;20(9):965–975. doi:10.1038/gim.2017.221
   PubMed Web of Science ®Google Scholar
• Adam MP, Conta J, Bean L. Mowat-Wilson syndrome; 1993.
   Google Scholar