Annals of Laboratory Medicine

Korean Society for Laboratory Medicine (대한진단검사의학회)
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Complete STK11 Deletion and Atypical Symptoms in Peutz-Jeghers Syndrome

  • Jang, Myeong Sun (Department of Pediatrics, Soonchunhyang University College of Medicine) ;
  • Lee, Yoo Min (Department of Pediatrics, Soonchunhyang University College of Medicine) ;
  • Ko, Bong Min (Department of Digestive Disease Center and Research Institute, Department of Internal Medicine, Soonchunhyang University College of Medicine) ;
  • Kang, Goeun (Department of Laboratory Medicine, Mokpo Hankook Hospital) ;
  • Kim, Jong-Won (Department of Laboratory Medicine and Clinical Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Hong, Yong Hee (Department of Pediatrics, Soonchunhyang University College of Medicine)
  • Received : 2016.12.18
  • Accepted : 2017.05.07
  • Published : 2017.09.01
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Abstract

Keywords

Acknowledgement

Supported by : Soonchunhyang University

References

  1. Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 1998;391:184-7. https://doi.org/10.1038/34432
  2. Hemminki A, Tomlinson I, Markie D, Jarvinen H, Sistonen P, Bjorkqvist AM, et al. Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet 1997;15:87-90. https://doi.org/10.1038/ng0197-87
  3. Tiainen M, Ylikorkala A, Makela TP. Growth suppression by Lkb1 is mediated by a G(1) cell cycle arrest. Proc Natl Acad Sci U S A 1999;96: 9248-51. https://doi.org/10.1073/pnas.96.16.9248
  4. Le Meur N, Martin C, Saugier-Veber P, Joly G, Lemoine F, Moirot H, et al. Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome. Eur J Hum Genet 2004;12:415-8. https://doi.org/10.1038/sj.ejhg.5201155
  5. Hearle NC, Rudd MF, Lim W, Murday V, Lim AG, Phillips RK, et al. Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome. J Med Genet 2006;43:e15.
  6. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57. https://doi.org/10.1093/nar/gnf056
  7. Souza J, Faucz F, Sotomaior V, Filho AB, Rosenfeld J, Raskin S. Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome. Genet Mol Biol 2011;34:557-61. https://doi.org/10.1590/S1415-47572011005000044
  8. Amos CI, Keitheri-Cheteri MB, Sabripour M, Wei C, McGarrity TJ, Seldin MF, et al. Genotype-phenotype correlations in Peutz-Jeghers syndrome. J Med Genet 2004;41:327-33. https://doi.org/10.1136/jmg.2003.010900

Cited by

  1. Delayed diagnosis of Peutz-Jeghers syndrome due to pathological information loss or mistake in family/personal history vol.16, pp.1, 2017, https://doi.org/10.1186/s13023-021-01900-7