Annals of Laboratory Medicine

Korean Society for Laboratory Medicine (대한진단검사의학회)
권호 표지
DOI QR코드

DOI QR Code

Identification of SUZ12 Haploinsufficiency due to a 1.4-Mb Deletion at 17q11.2 in a Child With Overgrowth and Intellectual Disability Syndrome

  • Soyoung Park (Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine) ;
  • Mi-Ae Jang (Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine)
  • Received : 2022.08.24
  • Accepted : 2022.10.29
  • Published : 2023.05.01
Download PDF
⟨ Previous Next ⟩

Abstract

Keywords

References

  1. Margueron R and Reinberg D. The polycomb complex PRC2 and its mark in life. Nature 2011;469:343-9. https://doi.org/10.1038/nature09784
  2. Cyrus S, Burkardt D, Weaver DD, Gibson WT. PRC2-complex related dysfunction in overgrowth syndromes: a review of EZH2, EED, and SUZ12 and their syndromic phenotypes. Am J Med Genet C Semin Med Genet 2019;181:519-31. https://doi.org/10.1002/ajmg.c.31754
  3. Suri T and Dixit A. The phenotype of EZH2 haploinsufficiency–1.2-Mb deletion at 7q36.1 in a child with tall stature and intellectual disability. Am J Med Genet A 2017;173:2731-5. https://doi.org/10.1002/ajmg.a.38356
  4. Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, et al. Novel SUZ12 mutations in Weaver-like syndrome. Clin Genet 2018;94:461-6. https://doi.org/10.1111/cge.13415
  5. Imagawa E, Higashimoto K, Sakai Y, Numakura C, Okamoto N, Matsunaga S, et al. Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. Hum Mutat 2017;38:637-48. https://doi.org/10.1002/humu.23200
  6. Cyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, et al. Rare SUZ12 variants commonly cause an overgrowth phenotype. Am J Med Genet C Semin Med Genet 2019;181:532-47. https://doi.org/10.1002/ajmg.c.31748
  7. Schuettengruber B, Bourbon HM, Di Croce L, Cavalli G. Genome regulation by polycomb and trithorax: 70 years and counting. Cell 2017;171: 34-57. https://doi.org/10.1016/j.cell.2017.08.002
  8. Kehrer-Sawatzki H, Wahlländer U, Cooper DN, Mautner VF. Atypical NF1 microdeletions: challenges and opportunities for genotype/phenotype correlations in patients with large NF1 deletions. Genes (Basel) 2021; 12:1639. https://doi.org/10.3390/genes12101639
  9. Pasmant E, Sabbagh A, Spurlock G, Laurendeau I, Grillo E, Hamel MJ, et al. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat 2010;31:E1506-18. https://doi.org/10.1002/humu.21271
  10. Genome Aggregation Database (gnomAD v2.1.1). http://gnomad.broadinstitute.org (Updated on Aug 2022).