First Korean case of SATB2-associated 2q32-q33 microdeletion syndrome - PubMed (original) (raw)

Case Reports

First Korean case of SATB2-associated 2q32-q33 microdeletion syndrome

Nae Yu et al. Ann Lab Med. 2015 Mar.

No abstract available

PubMed Disclaimer

Conflict of interest statement

No potential conflicts of interest relevant to this article were reported.

Figures

Fig. 1

Chromosomal microarray profile of chromosome 2. (A) The whole chromosome 2 view shows copy number loss in the 2q32.3-33.1 region. Blue dots with a log2 value of -1 represent a 1:2 copy number ratio of the test to reference genomic DNA, indicating a heterozygous deletion (arrow). The expansion view of the 2q32-33 region revealed a 7.5-Mb heterozygous interstitial deletion in chr2:194,402,946-201,865,887 (including SATB2 gene). Bars represent the deletion sizes in the current case and other 2q32-q33 microdeletion syndrome cases. (B) MLPA analysis (red: control, blue: patient) results show heterozygous deletion of SATB2 gene on 2q33.1 (arrows), rsa 2q33.1×1. Abbreviation: MLPA, Mutiplex ligation-dependent probe amplification.

Similar articles

• SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
  Zarate YA, Fish JL. Zarate YA, et al. Am J Med Genet A. 2017 Feb;173(2):327-337. doi: 10.1002/ajmg.a.38022. Epub 2016 Oct 24. Am J Med Genet A. 2017. PMID: 27774744 Free PMC article. Review.
• [Phenotypic and genetic analysis of a sibpair with partial deletion of SATB2 gene caused by 2q33.1 microdeletion].
  Jin C, Lei Y, Liu J, Shan Q, Qian B, Zheng F, Chen P, Bai J. Jin C, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jun 10;36(6):628-631. doi: 10.3760/cma.j.issn.1003-9406.2019.06.025. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31055823 Chinese.
• Interstitial duplication of 2q32.1-q33.3 in a patient with epilepsy, developmental delay, and autistic behavior.
  Usui D, Shimada S, Shimojima K, Sugawara M, Kawasaki H, Shigematu H, Takahashi Y, Inoue Y, Imai K, Yamamoto T. Usui D, et al. Am J Med Genet A. 2013 May;161A(5):1078-84. doi: 10.1002/ajmg.a.35679. Epub 2013 Mar 5. Am J Med Genet A. 2013. PMID: 23463730
• Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development.
  Britanova O, Depew MJ, Schwark M, Thomas BL, Miletich I, Sharpe P, Tarabykin V. Britanova O, et al. Am J Hum Genet. 2006 Oct;79(4):668-78. doi: 10.1086/508214. Epub 2006 Aug 30. Am J Hum Genet. 2006. PMID: 16960803 Free PMC article.
• Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
  Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny A, Curry CJ, Graham JM Jr, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM, Lacro RV. Zarate YA, et al. Clin Genet. 2021 Apr;99(4):547-557. doi: 10.1111/cge.13912. Epub 2021 Jan 13. Clin Genet. 2021. PMID: 33381861 Review.

Cited by

• Role of Satb1 and Satb2 Transcription Factors in the Glutamate Receptors Expression and Ca2+ Signaling in the Cortical Neurons In Vitro.
  Turovsky EA, Turovskaya MV, Fedotova EI, Babaev AA, Tarabykin VS, Varlamova EG. Turovsky EA, et al. Int J Mol Sci. 2021 May 31;22(11):5968. doi: 10.3390/ijms22115968. Int J Mol Sci. 2021. PMID: 34073140 Free PMC article.
• SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
  Zarate YA, Fish JL. Zarate YA, et al. Am J Med Genet A. 2017 Feb;173(2):327-337. doi: 10.1002/ajmg.a.38022. Epub 2016 Oct 24. Am J Med Genet A. 2017. PMID: 27774744 Free PMC article. Review.
• Comparative Genomic Analysis of the DUF34 Protein Family Suggests Role as a Metal Ion Chaperone or Insertase.
  Reed CJ, Hutinet G, de Crécy-Lagard V. Reed CJ, et al. Biomolecules. 2021 Aug 27;11(9):1282. doi: 10.3390/biom11091282. Biomolecules. 2021. PMID: 34572495 Free PMC article.

References

1. 1. Balasubramanian M, Smith K, Basel-Vanagaite L, Feingold MF, Brock P, Gowans GC, et al. Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype. J Med Genet. 2011;48:290–298. - PubMed
2. 1. Rosenfeld JA, Ballif BC, Lucas A, Spence EJ, Powell C, Aylsworth AS, et al. Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. PLoS One. 2009;4:e6568. - PMC - PubMed
3. 1. Döcker D, Schubach M, Menzel M, Munz M, Spaich C, Biskup S, et al. Further delineation of the SATB2 phenotype. Eur J Hum Genet. 2014;22:1034–1039. - PMC - PubMed
4. 1. Zhao X, Qu Z, Tickner J, Xu J, Dai K, Zhang X. The role of SATB2 in skeletogenesis and human disease. Cytokine Growth Factor Rev. 2014;25:35–44. - PubMed
5. 1. FitzPatrick DR, Carr IM, McLaren L, Leek JP, Wightman P, Williamson K, et al. Identification of SATB2 as the cleft palate gene on 2q32-q33. Hum Mol Genet. 2003;12:2491–2501. - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Europe PubMed Central
  • Inforang
  • PubMed Central

• Other Literature Sources

  • scite Smart Citations