Journal of Genetic Medicine

  • 제11권2호
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  • Pages.79-82
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  • 2014
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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A case of Mowat-Wilson syndrome with developmental delays and Hirschsprung's disease

  • Lee, Darae (Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine) ;
  • Kim, Ja Hye (Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine) ;
  • Cho, Ja Hyang (Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine) ;
  • Oh, Moon-Yun (Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine) ;
  • Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine) ;
  • Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine) ;
  • Choi, Jin-Ho (Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine)
  • 투고 : 2014.07.31
  • 심사 : 2014.10.11
  • 발행 : 2014.12.31
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초록

Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung's disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilson syndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has been previously reported. Here, we describe a patient with Mowat-Wilson syndrome who presented with developmental delays, typical facial dysmorphism, and Hirschsprung's disease. Molecular analysis of ZEB2 identified a novel heterozygous mutation at c.190dup ($p.S64Kfs^*6$). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome that has been confirmed genetically.

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참고문헌

  1. Mowat DR, Croaker GD, Cass DT, Kerr BA, Chaitow J, Ades LC, 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;35:617-23. https://doi.org/10.1136/jmg.35.8.617
  2. Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 2014;133:1-9. https://doi.org/10.1007/s00439-013-1358-4
  3. Park JY, Cho EH, Lee EH, Kang YS, Jun KR, Hur YJ. Mowat-Wilson syndrome detected by using high resolution microarray. Gene 2013;532:307-9. https://doi.org/10.1016/j.gene.2013.07.067
  4. El-Kasti MM, Wells T, Carter DA. A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat- Wilson syndrome phenotypes. Hum Mol Genet 2012;21:5429-42. https://doi.org/10.1093/hmg/dds389
  5. Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, et al. Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. Am J Med Genet A 2009;149A:417-26. https://doi.org/10.1002/ajmg.a.32693
  6. Bonnard A, Zeidan S, Degas V, Viala J, Baumann C, Berrebi D, et al. Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome. J Pediatr Surg 2009;44:587-91. https://doi.org/10.1016/j.jpedsurg.2008.10.066
  7. Borrego S, Ruiz-Ferrer M, Fernandez RM, Antinolo G. Hirschsprung's disease as a model of complex genetic etiology. Histol Histopathol 2013;28:1117-36.
  8. Garavelli L, Mainardi PC. Mowat-Wilson syndrome. Orphanet J Rare Dis 2007;2:42. https://doi.org/10.1186/1750-1172-2-42
  9. Adam MP, Conta J, Bean LJH. Mowat-Wilson syndrome. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, et al., eds. $GeneReviews^{(R)}$. [http://www.ncbi.nlm.nih.gov.libproxy.amc.seoul.kr:8000/books/NBK1116/]
  10. Ariss M, Natan K, Friedman N, Traboulsi EI. Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2. Ophthalmic Genet 2012;33:159-60. https://doi.org/10.3109/13816810.2011.610860
  11. Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, et al. Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. Am J Med Genet A 2013;161A:273-84.